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

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) and CSC...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Feng, Jincai, Lan, Xiaoping, Shen, Jun, Song, Xiaozhen, Tang, Xiaojun, Xu, Wuhen, Ren, Xiang, Zhang, Hong, Yu, Guangjun, Wu, Shengnan
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7005612/
https://ncbi.nlm.nih.gov/pubmed/31903734
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1096
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