SOX17 Mutations Implicated in Urinary Tract Abnormalities

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Mutations in SOX17 are Associated with Congenital Anomalies of the Kidney and the Urinary Tract

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 identified mutations in SOX17, an HMG-box transcription factor and Wnt signaling antagonist, in eigh...

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abnormalities . Constipation and reversible urinary tract

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1 Hall SM, Nicoll A. The British Paediatric Surveillance Unit—a pioneering method for investigating the less common disorders of childhood. Child Care Health Dev 1998;24:129-43. (Report of a seminar held in June 1995.) 2 Thomas HIJ. Specific antibody avidity studies in clinical microbiology: past, present and future. PHLS Microbiology Digest 1995;12(2):97-102. 3 Sentinel surveillance shows smal...

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ژورنال

عنوان ژورنال: Human Mutation

سال: 2010

ISSN: 1059-7794

DOI: 10.1002/humu.21412