A de novo MAPRE2 variant in a patient with congenital symmetric circumferential skin creases type 2
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DOI: 10.1002/mgg3.1096
Abstract: 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… read more here.
Keywords: symmetric circumferential; congenital symmetric; skin creases; novo mapre2 ... See more keywords