Study Detail

TitlePenetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression (3)
Study TypeTranscriptome Analysis
Abstract Biallelic mutations of the DNA annealing helicase SMARCAL1 (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin, subfamily a-like 1) cause Schimke immuno-osseous dysplasia (SIOD, MIM 242900), an incompletely penetrant autosomal recessive disorder. Using human, Drosophila, and mo .. [more]
Center NameGEO