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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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2013
Assuntos:
Exceptional Cases
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3616761/
https://ncbi.nlm.nih.gov/pubmed/23262432
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/ndt/gfs539
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