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pro vyhledávání: '"Hai Duc Hoang"'
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 6, Pp n/a-n/a (2024)
Abstract Background Polydactyly, particularly of the index finger, remains an intriguing anomaly for which no specific gene or locus has been definitively linked to this phenotype. In this study, we conducted an investigation of a three‐generation
Externí odkaz:
https://doaj.org/article/2cc602fcbd1742fd93b4bd77246dd675
Autor:
Hai Duc Hoang, Thy Ngoc Nguyen
Publikováno v:
Gene Reports. 22:100995
Introduction Apert syndrome is a congenital disorder characterized by midfacial hypoplasia, syndactyly, and low intellectual quotient. In this study, we analyzed the expressed genome of an Apert patient to determine pathogenic genetic variants that p