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...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	Biyun Feng, Guoying Chang, Qianwen Zhang, Xin Li, Yijun Tang, Shili Gu, Yirou Wang, Jian Wang, Xiumin Wang
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Wiley 2022-06-01
Цуврал:	Molecular Genetics & Genomic Medicine
Нөхцлүүд:	CEP57 microcephaly mosaic variegated aneuploidy (MVA) short stature whole‐exome sequencing
Онлайн хандалт:	https://doi.org/10.1002/mgg3.1951
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!