Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome-Reference-Cited by-同舟云学术

Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome

Published:2013-10-09 Issue:1 Volume:99 Page:35-38
ISSN:0003-9888
Container-title:Archives of Disease in Childhood
language:en
Short-container-title:Archives of Disease in Childhood

Author:

Fabre A.,Breton A.,Coste M.-E.,Colomb V.,Dubern B.,Lachaux A.,Lemale J.,Mancini J.,Marinier E.,Martinez-Vinson C.,Peretti N.,Perry A.,Roquelaure B.,Venaille A.,Sarles J.,Goulet O.,Badens C.

Publisher

BMJ

Subject

Pediatrics, Perinatology and Child Health

Reference20 articles.

1. Intractable infant diarrhea associated with phenotypic abnormalities and immunodeficiency;Girault;J Pediatr,1994

2. Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy);Hartley;Gastroenterology,2010

3. Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome;Fabre;Hum Mutat,2011

4. SKIV2 L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome;Fabre;Am J Hum Genet,2012

5. Syndromic (phenotypic) diarrhea in early infancy;Goulet;Orphanet J Rare Dis,2008

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