homologue of mouse dl cause autosomal recessive and dominant hypohidroticectodermaldysplasia. Nature Genetics. August 1999, 22 (4): 366–9. PMID 10431241
disease, sleep apnea, and enlargement of the liver and spleen. Hypohidroticectodermaldysplasia, presenting with hypohidrosis, hypotrichosis, hypodontia Kabuki