Microcornea, iris and choroidal coloboma, and global developmental delay caused by TENM3 pathogenic variants in a Chinese patient

Abstract Background Biallelic TENM3 pathogenic variants cause isolated or syndromic microphthalmia. Syndromic microphthalmia 15 (MCOPS15) is characterized by microphthalmia, coloboma, and developmental delay. Currently, only four cases of MCOPS15 have been reported and the clinical features varied a...

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Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	Youfeng Zhou, Ke Xu, Weiyue Gu, Yan Huang
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Wiley 2022-06-01
Цуврал:	Molecular Genetics & Genomic Medicine
Нөхцлүүд:	congenital heart defects global developmental delay Microphthalmia TENM3
Онлайн хандалт:	https://doi.org/10.1002/mgg3.1948
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!