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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Detalhes bibliográficos
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Blackwell Publishing Ltd 2013
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3654556/
https://ncbi.nlm.nih.gov/pubmed/23320570
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/dme.12122
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