Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency

AIMS: Recessive PDX1 (IPF1) mutations are a rare cause of pancreatic agenesis, with three cases reported worldwide. A recent report described two cousins with a homozygous hypomorphic PDX1 mutation causing permanent neonatal diabetes with subclinical exocrine insufficiency. The aim of our study was...

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Detalles Bibliográficos
Autores principales: De Franco, E, Shaw-Smith, C, Flanagan, S E, Edghill, E L, Wolf, J, Otte, V, Ebinger, F, Varthakavi, P, Vasanthi, T, Edvardsson, S, Hattersley, A T, Ellard, S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2013
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3654556/
https://www.ncbi.nlm.nih.gov/pubmed/23320570
http://dx.doi.org/10.1111/dme.12122

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