title: Whole-Exome-Sequencing Reveals Small Deletions in CASP14 in Patients with Autosomal Recessive Inherited Ichthyosis.
authors: Institute of Human Genetics, University Medical Center Freiburg, 79106 Freiburg, Germany.
authors: Peter
authors: P
authors: Kirchmeier
authors: Andreas
authors: A
authors: Zimmer
authors: Bakar
authors: B
authors: Bouadjar
authors: Bernd
authors: B
authors: Rösler
authors: Judith
authors: J
authors: Fischer
mesh_terms: D000462:Algeria; D020169:Caspases / Q000235:genetics*; D003241:Consanguinity; D059472:Exome; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D005808:Genes, Recessive; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D008297:Male; D010641:Phenotype; D017384:Sequence Deletion
chemical_list: C506446:CASP14 protein, human; D020169:Caspases