2024
DOI: 10.1002/mgg3.2393
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A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature

Jian Sun,
Nian Yang,
Zhengquan Xu
et al.

Abstract: BackgroundBrachydactyly type E (BDE) is a general term characterized by variable shortening of metacarpals and metatarsals, with phalanges affected frequently. It can occur as an isolated form or part of syndromes and manifest a high degree of phenotypic variability. In this study, we have identified the clinical characteristics and pathogenic causes of a four‐generation pedigree with 10 members affected by BDE and short stature.MethodsAfter the informed consent was signed, clinical data and peripheral blood s… Show more

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