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Relevance of SOX17 Variants for Hypomyelinating Leukodystrophies and Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)

✍ Scribed by Patricia Combes; Vincent Planche; Eléonore Eymard-Pierre; Catherine Sarret; Diana Rodriguez; Odile Boespflug-Tanguy; Catherine Vaurs-Barriere


Book ID
115249857
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
552 KB
Volume
76
Category
Article
ISSN
0003-4800

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Congenital anomalies of the kidney and the urinary tract (CAKUT) represent a major source of morbidity and mortality in children. Several factors (PAX, SOX,WNT, RET, GDFN, and others) play critical roles during the differentiation process that leads to the formation of nephron epithelia. We have ide