Related references
Note: Only part of the references are listed.Monogenic mutations in four cases of neonatal-onset watery diarrhea and a mutation review in East Asia
Weihui Yan et al.
ORPHANET JOURNAL OF RARE DISEASES (2021)
A case of severe malnutrition infant with neonatal onset intractable diarrhea
Youhong Fang et al.
BMC PEDIATRICS (2020)
Outcome associated with EPCAM founder mutation c.499dup in Qatar
Kamal Hassan et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2020)
Tufting Enteropathy: A Review of Clinical and Histological Presentation, Etiology, Management, and Outcome
Changzhou Cai et al.
GASTROENTEROLOGY RESEARCH AND PRACTICE (2020)
New mutation in EPCAM for congenital tufting enteropathy: A case report
Yan-Qiong Zhou et al.
WORLD JOURNAL OF CLINICAL CASES (2020)
EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome
Sagar J. Pathak et al.
HUMAN MUTATION (2019)
Novel Mutations in EPCAM Cause Congenital Tufting Enteropathy
Wenjuan Tang et al.
JOURNAL OF CLINICAL GASTROENTEROLOGY (2018)
A Systematic Review of Molecular Autopsy Studies in Sudden Infant Death Cases
Laura Jane Heathfield et al.
JOURNAL OF PEDIATRIC GENETICS (2018)
HERC1 mutations in idiopathic intellectual disability
G. Eda Utine et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2017)
Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy
Dale L. Bodian et al.
COLD SPRING HARBOR MOLECULAR CASE STUDIES (2017)
Identification of EPCAM mutation: clinical use of microarray
Queenie K. -G. Tan et al.
CLINICAL CASE REPORTS (2017)
New Mutations of EpCAM Gene for Tufting Enteropathy in Saudi Arabia
Shaden AlMahamed et al.
SAUDI JOURNAL OF GASTROENTEROLOGY (2017)
Intractable Diarrhea in Two Brothers: Late Diagnosis of Tufting Enteropathy in Adolescence
Kelly Haas et al.
DIGESTIVE DISEASES AND SCIENCES (2016)
Genetic analysis of Italian patients with congenital tufting enteropathy
Maria d'Apolito et al.
WORLD JOURNAL OF PEDIATRICS (2016)
A Novel Compound-Heterozygous Epithelial Cell Adhesion Molecule Mutation in Tufting Enteropathy
Valentina Shakhnovich et al.
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION (2014)
Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form
Julie Salomon et al.
HUMAN GENETICS (2014)
A Novel Nonsense Mutation in the EpCAM Gene in a Patient With Congenital Tufting Enteropathy
Cornelia Thoeni et al.
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION (2014)
EpCAM: Structure and function in health and disease
Ulrike Schnell et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES (2013)
Congenital Diarrheal Disorders: An Updated Diagnostic Approach
Gianluca Terrin et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2012)
A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic Gulf
Julie Salomon et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2011)
Intractable Diarrhea With Tufting Enteropathy: A Favorable Outcome Is Possible
Julie Lemale et al.
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION (2011)
Superficial Punctate Keratitis and Conjunctival Erosions Associated With Congenital Tufting Enteropathy
Olivier Roche et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2010)
Tufting Enteropathy with EpCAM Mutations in Two Siblings
Jae Sung Ko et al.
GUT AND LIVER (2010)
Mutations in SPINT2 Cause a Syndromic Form of Congenital Sodium Diarrhea
Peter Heinz-Erian et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Identification of EpCAM as the gene for congenital tufting enteropathy
Mamata Sivagnanam et al.
GASTROENTEROLOGY (2008)
Intestinal epithelial dysplasia (tufting enteropathy)
Olivier Goulet et al.
ORPHANET JOURNAL OF RARE DISEASES (2007)
Neonatal enteropathies: Defining the causes of protracted diarrhea of infancy
PM Sherman et al.
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION (2004)
The sudden infant death syndrome gene: Does it exist?
SH Opdal et al.
PEDIATRICS (2004)
Intractable diarrhea of infancy with congenital intestinal mucosa abnormalities: Outcome of four cases
M Gambarara et al.
TRANSPLANTATION PROCEEDINGS (2003)