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Pleiotropy

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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Related Experiment Video

Updated: Oct 15, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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Published on: August 20, 2019

Mosaic TP63 variant and associated ectodermal dysplasia features

Vivien Chen¹, Naiem Issa¹, Fernanda Bellodi Schmidt¹

¹Dr. Phillip Frost Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, Florida.

JAAD Case Reports

|October 27, 2021

Summary

No abstract available in PubMed .

Keywords:

DNA copy number variations ED, ectodermal dysplasia TP63, tumor protein p63 ectodermal dysplasia mosaicism transcription factors

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