Traboulsi syndrome without features of Marfan syndrome caused by a novel homozygous ASPH variant associated with a heterozygous FBN1 variant.
Sign Up to like & getrecommendations! Published in 2023 at "Ophthalmic genetics"
DOI: 10.1080/13816810.2023.2206888
Abstract: BACKGROUND Traboulsi syndrome is a rare disease clinically characterized by facial dysmorphism, abnormal spontaneous filtering blebs, ectopia lentis (EL) and multiple anterior segment abnormalities. MATERIAL AND METHODS An 18-year-old female was referred to the Emergency… read more here.
Keywords: syndrome without; variant; syndrome; asph ... See more keywords
FOXP3 mutations causing early‐onset insulin‐requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X‐linked syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Pediatric Diabetes"
DOI: 10.1111/pedi.12612
Abstract: Diabetes occurs in 1/90 000 to 1/160 000 births and when diagnosed under 6 months of age is very likely to have a primary genetic cause. FOXP3 encodes a transcription factor critical for T regulatory cell function and… read more here.
Keywords: insulin requiring; diabetes without; without features; immune dysregulation ... See more keywords