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Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations

Walczak-Sztulpa, J; Wawrocka, A; Sobierajewicz, A; Kuszel, L; Zawadzki, J; Grenda, R; Swiader-Lesniak, A; Kocyla-Karczmarewicz, B; Wnuk, A; Latos-Bielenska, A; Chrzanowska, KH

Chrzanowska, KH (reprint author), Childrens Mem Hlth Inst, Dept Med Genet, Al Dzieci Polskich 20, PL-04730 Warsaw, Poland.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017; 173 (5): 1364

Abstract

Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy. Cranioectodermal dysplasia is characterized by......

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