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Material Type: Article
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Case Report: Novel rare mutation c.6353C > G in the ABCA12 gene causing harlequin ichthyosis identified by whole exome sequencingFrontiers in pediatrics, 2023-02, Vol.11, p.1128716 [Peer Reviewed Journal]2023 Tran, Diep, Zilong, Phuong, Tran, Van Tung, Lien, Xuan, Ha, Van Ta, Tran and Hoang. ;2023 Tran, Diep, Zilong, Phuong, Tran, Van Tung, Lien, Xuan, Ha, Van Ta, Tran and Hoang. 2023 Tran, Diep, Zilong, Phuong, Tran, Van Tung, Lien, Xuan, Ha, Van Ta, Tran and Hoang ;ISSN: 2296-2360 ;EISSN: 2296-2360 ;DOI: 10.3389/fped.2023.1128716 ;PMID: 36873642Full text available |
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Material Type: Article
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A novel IGHMBP2 variant and clinical diversity in Vietnamese SMARD1 and CMT2S patientsFrontiers in pediatrics, 2024, Vol.12, p.1165492-1165492 [Peer Reviewed Journal]2024 Tran, Cao, Nguyen, Le, Tran, Vu, Nguyen, Nguyen, Bui, Nguyen, Ta and Tran. ;2024 Tran, Cao, Nguyen, Le, Tran, Vu, Nguyen, Nguyen, Bui, Nguyen, Ta and Tran. 2024 Tran, Cao, Nguyen, Le, Tran, Vu, Nguyen, Nguyen, Bui, Nguyen, Ta and Tran ;ISSN: 2296-2360 ;EISSN: 2296-2360 ;DOI: 10.3389/fped.2024.1165492 ;PMID: 38415210Full text available |