A de novo MAPRE2 variant in a patient with congenital symmetric circumferential skin creases type 2

Abstract Background Congenital symmetric circumferential skin creases (CSCSC) was initially described five decades ago. Exome sequencing has recently revealed the genetic etiology of CSCSC. Pathogenic variants in TUBB (OMIM# 191130) and MAPRE2 (OMIM# 605789) have been linked to CSCSC1 (OMIM# 156610)...

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Principais autores:	Jincai Feng, Xiaoping Lan, Jun Shen, Xiaozhen Song, Xiaojun Tang, Wuhen Xu, Xiang Ren, Hong Zhang, Guangjun Yu, Shengnan Wu
Format:	Artigo
Jezik:	Inglês
Izdano:	Wiley 2020-02-01
Serija:	Molecular Genetics & Genomic Medicine
Teme:	congenital symmetric circumferential skin creases exome sequencing MAPRE2 mutations
Online dostop:	https://doi.org/10.1002/mgg3.1096
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