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Familial GATA6 mutation causing variably expressed diabetes mellitus and cardiac and renal abnormalities

A 26-year-old man presented with a combination of permanent neonatal diabetes due to pancreatic aplasia, complex congenital heart disease, central hypogonadism and growth hormone deficiency, structural renal abnormalities with proteinuria, umbilical hernia, neurocognitive impairment and dysmorphic f...

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Detalles Bibliográficos
Autores principales:	Du, Yang Timothy, Moore, Lynette, Poplawski, Nicola K, De Sousa, Sunita M C
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Bioscientifica Ltd 2019
Materias:	New Disease or Syndrome: Presentations/Diagnosis/Management
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6499914/ https://www.ncbi.nlm.nih.gov/pubmed/31051468 http://dx.doi.org/10.1530/EDM-19-0022

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