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Identity analysis of schwannomatosis kindreds with recurrent constitutional SMARCB1 (INI1) alterations
Clinical Genetics
|March 27, 2009
Abstract
No abstract available in 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,...
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