Trichohepatoenteric syndrome type 1: expanding the clinical spectrum of THES type 1 due to a homozygous variant in the SKIC3 gene

• Main Authors: Abdullah Alrammal (Author), Rashed Aljundi (Author), Sedra Abu Ghedda (Author), Buthaina Mustafa AlMurbati (Author)
• פורמט: ספר
• יצא לאור: BMC, 2024-07-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Abstract Trichohepatoenteric syndrome (THES), also known as phenotypic diarrhea or syndromic diarrhea, is a rare autosomal recessive genetic disorder caused by mutations in SKIC2 (THES-type 2) or SKIC3 (THES-type 1) and is characterized by early onset diarrhea, woolly brittle hair, facial dysmorphic...