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Refined by: Journal Title: Bmj Case Reports remove subject: Congenital Diseases remove subject: Mutation remove
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1
Atypical hypertrophy of retinal pigment epithelium manifesting as the first sign of familial adenomatous polyposis
Atypical hypertrophy of retinal pigment epithelium manifesting as the first sign of familial adenomatous polyposis
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Atypical hypertrophy of retinal pigment epithelium manifesting as the first sign of familial adenomatous polyposis

BMJ case reports, 2023-11, Vol.16 (11), p.e254350 [Peer Reviewed Journal]

2023 BMJ Publishing Group Limited 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/ This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ . Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2022-254350

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2
Large birth mark and unilateral swelling of the lower extremity in a young teenager
Large birth mark and unilateral swelling of the lower extremity in a young teenager
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Large birth mark and unilateral swelling of the lower extremity in a young teenager

BMJ case reports, 2024-05, Vol.17 (5), p.e258892 [Peer Reviewed Journal]

BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;2024 BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2023-258892 ;PMID: 38702071

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3
Congenital pterygium with anterior segment dysgenesis: rare ocular manifestation in Rubinstein-Taybi syndrome
Congenital pterygium with anterior segment dysgenesis: rare ocular manifestation in Rubinstein-Taybi syndrome
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Congenital pterygium with anterior segment dysgenesis: rare ocular manifestation in Rubinstein-Taybi syndrome

BMJ case reports, 2024-04, Vol.17 (4), p.e257962 [Peer Reviewed Journal]

BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;2024 BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2023-257962 ;PMID: 38642933

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4
PYROXD1 -associated myopathy
PYROXD1 -associated myopathy
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PYROXD1 -associated myopathy

BMJ case reports, 2024-03, Vol.17 (3), p.e259907 [Peer Reviewed Journal]

BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;2024 BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2024-259907 ;PMID: 38553017

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5
Autosomal recessive ALOX12B gene and consecutive collodion baby
Autosomal recessive ALOX12B gene and consecutive collodion baby
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Autosomal recessive ALOX12B gene and consecutive collodion baby

BMJ case reports, 2024-03, Vol.17 (3), p.e257608 [Peer Reviewed Journal]

BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;2024 BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2023-257608 ;PMID: 38514164

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6
Simpson-Golabi-Behmel syndrome type 1 with normal birth parameters
Simpson-Golabi-Behmel syndrome type 1 with normal birth parameters
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Simpson-Golabi-Behmel syndrome type 1 with normal birth parameters

BMJ case reports, 2024-03, Vol.17 (3), p.e247864 [Peer Reviewed Journal]

BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;2024 BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2021-247864 ;PMID: 38442972

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7
Additional mutation in PROKR2 and phenotypic differences in a Kallmann syndrome/normosmic congenital hypogonadotropic hypogonadism family carrying FGFR1 missense mutation
Additional mutation in PROKR2 and phenotypic differences in a Kallmann syndrome/normosmic congenital hypogonadotropic hypogonadism family carrying FGFR1 missense mutation
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Additional mutation in PROKR2 and phenotypic differences in a Kallmann syndrome/normosmic congenital hypogonadotropic hypogonadism family carrying FGFR1 missense mutation

BMJ case reports, 2024-01, Vol.17 (1), p.e258042 [Peer Reviewed Journal]

BMJ Publishing Group Limited 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. ;2024 BMJ Publishing Group Limited 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/ This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ . Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;BMJ Publishing Group Limited 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. 2024 ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2023-258042 ;PMID: 38272512

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8
Papillorenal syndrome: a systemic diagnosis not to be missed on fundoscopy
Papillorenal syndrome: a systemic diagnosis not to be missed on fundoscopy
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Papillorenal syndrome: a systemic diagnosis not to be missed on fundoscopy

BMJ case reports, 2021-07, Vol.14 (7), p.e241708 [Peer Reviewed Journal]

2021 BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ. 2021 ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2021-241708 ;PMID: 34285019

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9
Rare cause of recurrent hypocalcaemia and functional hypoparathyroidism due to hypomagnesaemia caused by TRPM6 gene mutation
Rare cause of recurrent hypocalcaemia and functional hypoparathyroidism due to hypomagnesaemia caused by TRPM6 gene mutation
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Rare cause of recurrent hypocalcaemia and functional hypoparathyroidism due to hypomagnesaemia caused by TRPM6 gene mutation

BMJ case reports, 2024-02, Vol.17 (2), p.e257505 [Peer Reviewed Journal]

BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;2024 BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2023-257505 ;PMID: 38413141

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10
Bilateral cryptophthalmos with overlapping features of Manitoba oculo-tricho-anal (MOTA) syndrome and Fraser syndrome 2
Bilateral cryptophthalmos with overlapping features of Manitoba oculo-tricho-anal (MOTA) syndrome and Fraser syndrome 2
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Bilateral cryptophthalmos with overlapping features of Manitoba oculo-tricho-anal (MOTA) syndrome and Fraser syndrome 2

BMJ case reports, 2023-06, Vol.16 (6), p.e252618 [Peer Reviewed Journal]

BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;2023 BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2022-252618 ;PMID: 37353237

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11
Lamin A/C cardiomyopathy presenting as high-grade atrioventricular (AV) block, atrial fibrillation, heart failure and ventricular tachycardia in a single-family cluster
Lamin A/C cardiomyopathy presenting as high-grade atrioventricular (AV) block, atrial fibrillation, heart failure and ventricular tachycardia in a single-family cluster
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Lamin A/C cardiomyopathy presenting as high-grade atrioventricular (AV) block, atrial fibrillation, heart failure and ventricular tachycardia in a single-family cluster

BMJ case reports, 2023-06, Vol.16 (6), p.e255605 [Peer Reviewed Journal]

BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;2023 BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2023-255605 ;PMID: 37348923

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12
Congenital central hypoventilation syndrome: a life-threatening cause of neonatal apnoea
Congenital central hypoventilation syndrome: a life-threatening cause of neonatal apnoea
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Congenital central hypoventilation syndrome: a life-threatening cause of neonatal apnoea

BMJ case reports, 2021-09, Vol.14 (9), p.e244679 [Peer Reviewed Journal]

2021 BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ. 2021 ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2021-244679 ;PMID: 34544712

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13
Bruck syndrome: a rare cause of reduced fetal movements
Bruck syndrome: a rare cause of reduced fetal movements
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Bruck syndrome: a rare cause of reduced fetal movements

BMJ case reports, 2021-12, Vol.14 (12), p.e246786 [Peer Reviewed Journal]

2021 BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ. 2021 ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2021-246786 ;PMID: 34853049

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14
Prenatal diagnosis of isolated bilateral anophthalmia
Prenatal diagnosis of isolated bilateral anophthalmia
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Prenatal diagnosis of isolated bilateral anophthalmia

BMJ case reports, 2021-08, Vol.14 (8), p.e244684 [Peer Reviewed Journal]

BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;2021 BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ. 2021 ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2021-244684 ;PMID: 34404668

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15
Rare case of central congenital hypothyroidism due to a TSHβ mutation presenting with macro-orchidism
Rare case of central congenital hypothyroidism due to a TSHβ mutation presenting with macro-orchidism
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Rare case of central congenital hypothyroidism due to a TSHβ mutation presenting with macro-orchidism

BMJ case reports, 2023-11, Vol.16 (11), p.e252796 [Peer Reviewed Journal]

BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;2023 BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2022-252796 ;PMID: 37963664

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16
Novel mutation causing Zellweger syndrome
Novel mutation causing Zellweger syndrome
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Novel mutation causing Zellweger syndrome

BMJ case reports, 2023-03, Vol.16 (3), p.e252014 [Peer Reviewed Journal]

BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;2023 BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2022-252014 ;PMID: 36931687

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17
Polymicrogyria in a patient after twin-twin transfusion syndrome
Polymicrogyria in a patient after twin-twin transfusion syndrome
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Polymicrogyria in a patient after twin-twin transfusion syndrome

BMJ case reports, 2023-09, Vol.16 (9), p.e255510 [Peer Reviewed Journal]

BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;2023 BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2023-255510 ;PMID: 37739446

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18
Congenital myopathy presenting as recurrent pneumonia with lung collapse and pulmonary artery hypertension
Congenital myopathy presenting as recurrent pneumonia with lung collapse and pulmonary artery hypertension
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Congenital myopathy presenting as recurrent pneumonia with lung collapse and pulmonary artery hypertension

BMJ case reports, 2023-09, Vol.16 (9), p.e255502 [Peer Reviewed Journal]

BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;2023 BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2023-255502 ;PMID: 37739444

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19
Rare cause of persistent hypocalcaemia in infancy due to PTH gene mutation
Rare cause of persistent hypocalcaemia in infancy due to PTH gene mutation
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Article 		Add to My Research

Rare cause of persistent hypocalcaemia in infancy due to PTH gene mutation

BMJ case reports, 2023-09, Vol.16 (9), p.e256358 [Peer Reviewed Journal]

BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;2023 BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2023-256358 ;PMID: 37699739

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20
Congenital aniridia with ectopia lentis and unilateral buphthalmos: an unusual presentation
Congenital aniridia with ectopia lentis and unilateral buphthalmos: an unusual presentation
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Congenital aniridia with ectopia lentis and unilateral buphthalmos: an unusual presentation

BMJ case reports, 2021-08, Vol.14 (8), p.e244000 [Peer Reviewed Journal]

BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;2021 BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ. 2021 ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2021-244000 ;PMID: 34404663

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Results 1 - 20 of 153  for All Library Resources

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