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Updated: Oct 10, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene

M T Dotti1, C Battisti, A Malandrini

  • 1Unit of Metabolic Diseases, Institute of Neurological Sciences, University of Siena, Italy.

Movement Disorders : Official Journal of the Movement Disorder Society
|December 5, 2000
PubMed
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,...