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

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

Item
http://www.wikidata.org/entity/Q52851495
Rfx6 directs islet formation and insulin production in mice and humansNeonatal diabetes: an expanding list of genes allows for improved diagnosis and treatmentSox9b is a key regulator of pancreaticobiliary ductal system developmentSox17 regulates organ lineage segregation of ventral foregut progenitor cellsReview of genetic factors in intestinal malrotation.Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.Gallbladder agenesis with choledochal cyst--a rare association: a case report and review of possible genetic or embryological linksNeonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6.Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literatureA Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome.Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene.Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus.Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetranceCoexistence of gallbladder agenesis and cholangiocarcinoma: report of a caseClinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations
P2860

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

Item
http://www.wikidata.org/entity/Q52851495
description
2008 nî lūn-bûn
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2008年の論文
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2008年学术文章
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2008年学术文章
@zh
2008年学术文章
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2008年学术文章
@zh-hans
2008年学术文章
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2008年学术文章
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2008年學術文章
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2008年學術文章
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name
A further example of a distinc ...... ias and gall bladder agenesis.
@en
A further example of a distinc ...... ias and gall bladder agenesis.
@nl
type
label
A further example of a distinc ...... ias and gall bladder agenesis.
@en
A further example of a distinc ...... ias and gall bladder agenesis.
@nl
prefLabel
A further example of a distinc ...... ias and gall bladder agenesis.
@en
A further example of a distinc ...... ias and gall bladder agenesis.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P698
P356
P1433
P1476
A further example of a distinc ...... ias and gall bladder agenesis.
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P698