A novel CEP57 variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth

Abstract Background Mosaic variegated aneuploidy (MVA) syndrome is a rare, autosomal recessive genetic disease. Here, we report an ultra‐rare case of MVA syndrome associated with a CEP57 variant. Methods We retrospectively analyzed the clinical data of a 9‐year‐old female patient and surveyed her fa...

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Detalles Bibliográficos

Principais autores:	Biyun Feng, Guoying Chang, Qianwen Zhang, Xin Li, Yijun Tang, Shili Gu, Yirou Wang, Jian Wang, Xiumin Wang
Formato:	Artigo
Idioma:	Inglês
Publicado:	Wiley 2022-06-01
Series:	Molecular Genetics & Genomic Medicine
Assuntos:	CEP57 microcephaly mosaic variegated aneuploidy (MVA) short stature whole‐exome sequencing
Acceso en liña:	https://doi.org/10.1002/mgg3.1951
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