Article
MAPRE2 mutations result in altered human cranial neural crest migration, underlying craniofacial malformations in CSC-KT syndrome.
Scientific reports - 2 Mar 2021
Thues Cedric, Valadas Jorge S, Deaulmerie Liesbeth, Geens Ann, Chouhan Amit K, Duran-Romaña Ramon, Schymkowitz Joost, Rousseau Frederic, Bartusel Michaela, Rehimi Rizwan, Rada-Iglesias Alvaro, Verstreken Patrik, Van Esch Hilde
Abstract excerpt
Circumferential skin creases (CSC-KT) is a rare polymalformative syndrome characterised by intellectual disability associated with skin creases on the limbs, and very characteristic craniofacial malformations. Previously, heterozygous and homozygous mutations in MAPRE2 were found to be causal for this disease. MAPRE2 encodes for a member of evolutionary conserved microtubule plus end tracking proteins, the end...
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