Related Experiment Video
Updated: Aug 10, 2026

10:32
Transcriptomic Analysis of Human Retinal Surgical Specimens Using jouRNAl
Published on: August 14, 2013
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis
R Riveiro1, M J Trujillo-Tiebas, A Gimenez
1Fundacion Jimenez Diaz, Av/Reyes Catolicos 2, Madrid, Spain. rriveiro@fjd.es
Human Genetics
|March 8, 2006
Abstract
No abstract available in PubMed .
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Genetic Lingo
Overview
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,...
Sex-linked Disorders
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
