Identification of a pathogenic SMCHD1 variant in a Chinese patient with bosma arhinia microphthalmia syndrome: a case report
BMC medical genomics, 2024-05, Vol.17 (1), p.136-136 [Peer Reviewed Journal]2024. The Author(s). ;COPYRIGHT 2024 BioMed Central Ltd. ;The Author(s) 2024 ;ISSN: 1755-8794 ;EISSN: 1755-8794 ;DOI: 10.1186/s12920-024-01907-6 ;PMID: 38773541
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