Martinez-Frias syndrome: Evidence of linkage to RFX6 mutation-Reference-Cited by-同舟云学术

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Martinez-Frias syndrome: Evidence of linkage to RFX6 mutation

Published:2014-11 Issue:11 Volume:2 Page:492-494
ISSN:2213-5766
Container-title:Journal of Pediatric Surgery Case Reports
language:en
Short-container-title:Journal of Pediatric Surgery Case Reports

Author:

Mora Maria Carmen,Volk Joseph,Cuevas-Ocampo Areli K.,Wong Kaitlyn E.,Rockwell Gary,Tirabassi Michael V.,Tashjian David B.

Publisher

Elsevier BV

Subject

Surgery,Pediatrics, Perinatology, and Child Health

Reference9 articles.

1. Association of duodenal and biliary atresias in Martinez-Frias Syndrome: a very rare case;Savran;J Pediatr Surg Case Rep,2013

2. Intrauterine growth retardation, duodenal and extrahepatic biliary atresia, hypoplastic pancreas and other intestinal anomalies: further evidence of Martinez-Frias syndrome;Gálan-Gómez;Eur J Med Genet,2007

3. Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn;Martinovici;Eur J Med Genet,2010

4. A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis;Chappell;Am J Med Genet A,2008

5. Rfx6 directs islet formation and insulin production in mice and humans;Smith;Nature,2010

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. First multivisceral transplantation in Mitchell‐Riley/Martinez‐Frias syndrome;Pediatric Transplantation;2022-03-20

2. The Role of Fibroblast Growth Factor 10 Signaling in Duodenal Atresia;Frontiers in Pharmacology;2020-03-10

3. Achondroplasia and Biliary Atresia: A Rare Association and Review of Literature;Journal of Pediatric Genetics;2017-01-02

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