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Article

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

Molecular genetics & genomic medicine - 1 Feb 2020

Feng Jincai, Lan Xiaoping, Shen Jun, Song Xiaozhen, Tang Xiaojun, Xu Wuhen, Ren Xiang, Zhang Hong, Yu Guangjun, Wu Shengnan

Abstract excerpt

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 CSCSC2 (OMIM# 616734), respectively, in an autosomal dominant manner. Four pathogenic variants in MAPRE2 have been...

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Identifiers

PMID: 31903734
DOI: 10.1002/mgg3.1096
PMCID: PMC7005612

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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