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Double homozygous missense mutations in DACH1 and BMP4 in a patient with bilateral cystic renal dysplasia

21 Dec 2012

Abstract excerpt

Renal hypodysplasia (RHD) is characterized by small and/or disorganized kidneys following abnormal organogenesis. Mutations in several genes have been identified recently to be associated with RHD in humans, including BMP4, a member of the transforming growth factor (TGF)-β family of growth factors. DACH1 has been proposed as a candidate gene for RHD because of its involvement in the EYA-SIX-DACH network of renal...

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PMID: 23262432
DOI: 10.1093/ndt/gfs539

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