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

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....

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Veröffentlicht in:	Nephrology, dialysis, transplantation dialysis, transplantation, 2013-01, Vol.28 (1), p.227-232
Hauptverfasser:	Schild, Raphael, Knüppel, Tanja, Konrad, Martin, Bergmann, Carsten, Trautmann, Agnes, Kemper, Markus J, Wu, Kongming, Yaklichkin, Sergey, Wang, Jing, Pestell, Richard, Müller-Wiefel, Dirk E, Schaefer, Franz, Weber, Stefanie
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Bone Morphogenetic Protein 4 - genetics Exceptional Cases Eye Proteins - genetics Genetic Association Studies Homozygote Humans Kidney - abnormalities Male Mutation, Missense Polycystic Kidney, Autosomal Recessive - genetics Transcription Factors - genetics Urogenital Abnormalities - genetics Young Adult
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