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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: Jan 9, 2026

Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein

Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein

Published on: June 6, 2025

Gene-Specific Growth Charts for ASXL3-Related Disorder

E Woods^1,2, K J Low^3,4, T J Cole⁵

¹Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK.

American Journal of Medical Genetics. Part A

|December 10, 2025

Summary

No abstract available in PubMed .

Keywords:

ASXL3 LMSz charts growth

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