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Localization of a novel locus for hereditary nail dysplasia to chromosome 17q25.1-17q25.3

M A Rafiq1, M Ansar, T Pham

  • 1Department of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan.

Clinical Genetics
|June 18, 2004
PubMed

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Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...