Article
Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.
Clinical genetics - 1 Oct 2017
Zarate Y A, Kalsner L, Basinger A, Jones J R, Li C, Szybowska M, Xu Z L, Vergano S, Caffrey A R, Gonzalez C V, Dubbs H, Zackai E, Millan F, Telegrafi A, Baskin B, Person R, Fish J L, Everman D B
Abstract excerpt
SATB2-associated syndrome (SAS) is a multisystemic disorder caused by alterations of the SATB2 gene. We describe the phenotype and genotype of 12 individuals with 10 unique (de novo in 11 of 11 tested) pathogenic variants (1 splice site, 5 frameshift, 3 nonsense, and 2 missense) in SATB2 and review all cases reported in the published literature caused by point alterations thus far. In the cohort here described,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.