Two novel variants in CEP152 caused Seckel syndrome 5 in a Chinese family

Background: Seckel syndrome (SCKL) is a rare autosomal recessive inherited disorder, which is mainly characterized by intrauterine and postnatal growth restrictions, microcephaly, intellectual disability, and a typical “bird-head” facial appearance. Here, we aimed to identify the genetic etiology of...

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Xehetasun bibliografikoak

Egile Nagusiak:	Li Zhang, Yanling Teng, Haoran Hu, Huimin Zhu, Juan Wen, Desheng Liang, Zhuo Li, Lingqian Wu
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	Frontiers Media S.A. 2023-01-01
Saila:	Frontiers in Genetics
Gaiak:	Seckel syndrome microcephaly CEP152 whole-exome sequencing mRNA splicing
Sarrera elektronikoa:	https://www.frontiersin.org/articles/10.3389/fgene.2022.1052915/full
Etiketak:	Etiketa erantsi Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!