Novel Compound Heterozygous Variations in <i>MPDZ</i> Gene Caused Isolated Bilateral Macular Coloboma in a Chinese Family

Macular coloboma (MC) is a rare congenital retinochoroidal defect characterized by lesions of different sizes in the macular region. The pathological mechanism underlying congenital MC is unknown. Novel compound heterozygous variations, c.4301delA (p.Asp1434fs*3) and c.5255C>G (p.Ser1752Ter), in the...

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Autori principali:	Shuang Zhang, Fangxia Zhang, Juan Wang, Shangying Yang, Yinghua Ren, Xue Rui, Xiaobo Xia, Xunlun Sheng
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	MDPI AG 2022-11-01
Serie:	Cells
Soggetti:	macular coloboma MPDZ compound heterozygous mutation ellipsoid zone retina
Accesso online:	https://www.mdpi.com/2073-4409/11/22/3602
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