Article
Prenatal Phenotype of Alkuraya-Kučinskas Syndrome: A Novel Case and Systematic Literature Review.
Prenatal diagnosis - 1 Oct 2024
Rice Stephanie M, Varotsis Dante F, Wodoslawsky Sascha, Critchlow Elizabeth, Liu Ruby, McLaren Rodney A, Makhamreh Mona M, Firman Brandy, Berger Seth I, Al-Kouatly Huda B
Abstract excerpt
Alkuraya-Kučinskas syndrome (AKS) is an autosomal recessive multisystem disorder resulting from mutations in the BLTP1 gene, formerly known as KIAA1109. Primary manifestations include brain malformations, arthrogryposis, and clubfeet. Cardiac, renal, and ophthalmologic abnormalities may also be observed, while nonimmune hydrops is rare. We present a case of two novel BLTP1 canonical splice-site variants in a...
Topics
Join the communities discussing this publication.