The genetics of monogenic intestinal epithelial disorders
SJ Babcock, D Flores-Marin, JR Thiagarajah - Human Genetics, 2023 - Springer
Monogenic intestinal epithelial disorders, also known as congenital diarrheas and
enteropathies (CoDEs), are a group of rare diseases that result from mutations in genes that …
enteropathies (CoDEs), are a group of rare diseases that result from mutations in genes that …
Three Novel EPCAM Variants Causing Tufting Enteropathy in Three Families
H Ayyıldız Civan, C Leitner, I Östreicher, AM Schneider… - Children, 2021 - mdpi.com
Tufting enteropathy (TE) is caused by recessive EPCAM mutations, and is characterized by
intractable diarrhea of congenital onset and disorganization of enterocytes. TE generally …
intractable diarrhea of congenital onset and disorganization of enterocytes. TE generally …
Congenital Tufting Enteropathy, a Rare Cause of Diarrhea and Malnourishment in Arab Child with Genetic and Histopathology Investigations
S Alkhalifa, A Darwish, M Awadh… - Case Reports in …, 2023 - Wiley Online Library
Congenital tufting enteropathy (CTE), also known as intestinal epithelial dysplasia (IED), is a
rare autosomal recessive disorder due to EPCAM gene mutation. It is a rare congenital …
rare autosomal recessive disorder due to EPCAM gene mutation. It is a rare congenital …
Probing the Association of EPCAM Gene Single Nucleotide Polymorphisms with Genetic Disorders
F Razzaq, R Naseem - Journal of Health and Rehabilitation Research, 2024 - jhrlmc.com
Background: Mutations in the EPCAM gene can lead to the absence of this protein from
epithelial cell surfaces, resulting in various disorders such as Lynch syndrome, congenital …
epithelial cell surfaces, resulting in various disorders such as Lynch syndrome, congenital …