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

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 family me...

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Detalles Bibliográficos
Autores principales: Feng, Biyun, Chang, Guoying, Zhang, Qianwen, Li, Xin, Tang, Yijun, Gu, Shili, Wang, Yirou, Wang, Jian, Wang, Xiumin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9184657/
https://www.ncbi.nlm.nih.gov/pubmed/35434947
http://dx.doi.org/10.1002/mgg3.1951

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