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A novel mutation in GATA6 causes pancreatic agenesis

CONTEXT: Heterozygous mutations in GATA6 have been linked to pancreatic agenesis and cardiac malformations. OBJECTIVE: To describe a new mutation in GATA6 in an infant with pancreatic agenesis, associated with truncus arteriosus and absent gallbladder. RESEARCH DESIGN AND METHODS: Clinical data were...

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Main Authors: Stanescu, Diana E., Hughes, Nkecha, Patel, Puja, De León, Diva D.
Formáid: Artigo
Teanga:Inglês
Foilsithe: 2014
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4102676/
https://ncbi.nlm.nih.gov/pubmed/24433315
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/pedi.12111
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