A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic Gulf-Reference-Cited by-同舟云学术

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A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic Gulf

Published:2011-05 Issue:3 Volume:54 Page:319-322
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Salomon Julie,Espinosa-Parrilla Yolanda,Goulet Olivier,Al-Qabandi Wafa’a,Guigue Philippe,Canioni Danielle,Bruneau Julie,Alzahrani Fatema,Almuhsen Saleh,Cerf-Bensussan Nadine,Jeanpierre Marc,Brousse Nicole,Lyonnet Stanislas,Munnich Arnold,Smahi Asma

Funder

Projet Hospitalier de Recherche Clinique

Tumorothèque of Necker Hospital

Caroline Werl

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference13 articles.

1. Tufting enteropathy: a newly recognized clinicopathological entity associated with refractory diarrhea in infants;Reifen;J. Pediatr. Gastroenterol. Nutr.,1994

2. Distribution of cell adhesion molecules in infants with intestinal epithelial dysplasia (tufting enteropathy);Patey;Gastroenterology,1997

3. Intractable diarrhea of infancy with epithelial and basement membrane abnormalities;Goulet;J. Pediatr.,1995

4. Intestinal epithelial dysplasia (tufting enteropathy);Goulet;Orphanet. J. Rare Dis.,2007

5. Identification of EpCAM as the gene for congenital tufting enteropathy;Sivagnanam;Gastroenterology,2008

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1. Intestinal Failure in Childhood;Intestinal Failure;2023

2. Congenital enteropathies involving defects in enterocyte structure or differentiation;Best Practice & Research Clinical Gastroenterology;2022-02

3. Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review;Pediatric Gastroenterology, Hepatology & Nutrition;2022

4. Histopathology of intestinal villi in neonatal and paediatric age: main features with clinical correlation - Part I;Pathologica;2021-12

5. Monogenic mutations in four cases of neonatal-onset watery diarrhea and a mutation review in East Asia;Orphanet Journal of Rare Diseases;2021-09-09

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