Pathogenic Novel Heterozygous Variant c.1076c>T p. (Ser359Phe) chr1: 120512166 in NOTCH2 Gene, Type 2 Alagille Syndrome Causing Neonatal Cholestasis: A Case Report.

BACKGROUND Alagille syndrome (ALGS) is a multisystem hereditary illness with a dominant pattern and partial penetrance. Multiple organ abnormalities can be caused by mutations in the Jagged canonical Notch ligand 1 (JAG1) gene. Notch receptor 2 (NOTCH2) gene mutations are also uncommon.

Tricho-hepato-enteric syndrome: Retrospective multicenter experience in Saudi Arabia.

Background: Trichohepatoenteric syndrome (THES) is a very rare disorder that is characterized by intractable congenital diarrhea, woolly hair, intrauterine growth restriction, facial dysmorphism, and short stature. Our knowledge of THES is limited due to the small number of reported cases.

Methods: Thirty patients diagnosed with THES, all molecularly confirmed by whole exome sequencing (WES) to have biallelic variants in TTC37 or SKIV2L, were included in the study.

Severe Crohn's Disease Manifestations in a Child with Cystathionine β-Synthase Deficiency.

Inflammatory bowel diseases (IBDs) are idiopathic autoimmune diseases that are characterized by inflammation of both the small and large intestine. Although IBD is common in the general population, the pathophysiology remains ambiguous. Clear understanding of IBD pathophysiology would be a major step toward curative treatment in the future.

Prevalence of celiac disease among symptom-free children from the Eastern Province of Saudi Arabia.

Background/aim: Epidemiological studies of celiac disease (CD) among Saudi children have been performed only within some groups who are at a high risk of developing CD. The aim of this study was to determine the prevalence of CD among symptom-free children from the public schools of the military campus of National Guard in the Eastern Province of Saudi Arabia.

Patients And Methods: Between 2012 and 2014, serum samples were collected from 1141 students (age 6-18 years) attending nine public schools of the military campus of National Guard in the Eastern Province of Saudi Arabia.