Human genes for Clouston syndrome
Clouston syndrome [DOID:14693]
An ectodermal dysplasia that is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected and that has_material_basis_in heterozygous mutation in the GJB6 gene, which encodes connexin-30, on chromosome 13q12.
Synonyms: Clouston syndrome, Clouston disease, Clouston disorder, Clouston syndromes, DOID:14693 ...