Neonatal diagnosis of circumferential skin creases.
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DOI: 10.1002/bdr2.2187
Abstract: BACKGROUND Circumferential skin creases is a rare and heterogeneous disorder characterized by multiple and redundant skin folds, which can present as an isolated feature or in association with other phenotypic anomalies. Here, we report the… read more here.
Keywords: skin creases; skin; circumferential skin; neonatal diagnosis ... See more keywords
A de novo MAPRE2 variant in a patient with congenital symmetric circumferential skin creases type 2
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
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