A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome.

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A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome.

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2015 nî lūn-bûn

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2015年論文

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A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome.

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A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome.

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prefLabel

A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome.

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P1476

A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome.

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P2093

Noura Al Hassani

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Nusrat Khan

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Suha Hadi

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Waleed Dandan

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P2860

Rfx6 directs islet formation and insulin production in mice and humans

Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome

Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome?

Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.

Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6.

Intrauterine growth retardation, duodenal and extrahepatic biliary atresia, hypoplastic pancreas and other intestinal anomalies: further evidence of the Martínez-Frías syndrome.

A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis.

Lethal autosomal recessive syndrome with intrauterine growth retardation, intra- and extrahepatic biliary atresia, and esophageal and duodenal atresia

Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations

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246-249

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scholarly article

P356

10.4274/JCRPE.2387

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P433

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P478

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P577

2015-01-18T00:00:00Z

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P698

26761945

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P932

5096485

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