Article
Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes.
American journal of medical genetics. Part A - 1 Nov 2015
Gollasch Benjamin, Basmanav Fitnat Buket, Nanda Arti, Fritz Günter, Mahmoudi Hassnaa, Thiele Holger, Wehner Maria, Wolf Sabrina, Altmüller Janine, Nürnberg Peter, Frank Jorge, Betz Regina C
Abstract excerpt
Three children from an expanded consanguineous Kuwaiti kindred presented with ankyloblepharon, sparse and curly hair, and hypoplastic nails, suggestive of CHAND syndrome (OMIM 214350) that belongs to the heterogeneous spectrum of ectodermal dysplasias. After exclusion of pathogenic mutations in TP63 we performed homozygosity mapping, followed by exome sequencing of one affected individual. We initially identified...
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