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Article

Relevance of SOX17 variants for hypomyelinating leukodystrophies and congenital anomalies of the kidney and urinary tract (CAKUT).

Annals of human genetics - 1 May 2012

Combes Patricia, Planche Vincent, Eymard-Pierre Eléonore, Sarret Catherine, Rodriguez Diana, Boespflug-Tanguy Odile, Vaurs-Barriere Catherine

Abstract excerpt

The SRY-BOX17 gene (SOX17) encodes a transcription factor playing a key role in different developmental processes including endoderm formation, cardiac myogenesis, kidney/urinary development and differentiation of oligodendrocytes, the brain myelinating cells. In a candidate gene approach, we analyzed the SOX17 gene in hypomyelinating leukodystrophies (HL) characterized by a permanent deficit in the amount of...

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Source

Identifiers

PMID: 22348788
DOI: 10.1111/j.1469-1809.2011.00702.x

Genes

SOX17
SRY

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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