Ontology highlight
ABSTRACT:
SUBMITTER: Faden M
PROVIDER: S-EPMC4596891 | biostudies-other | 2015 Oct
REPOSITORIES: biostudies-other
Faden Maha M AlZahrani Fatema F Mendoza-Londono Roberto R Dupuis Lucie L Hartley Taila T Kannu Peter P Raiman Julian A JA Howard Andrew A Qin Wen W Tetreault Martine M Xi Joan Qiongchao JQ Al-Thamer Imadeddin I Maas Richard L RL Boycott Kym K Alkuraya Fowzan S FS
American journal of human genetics 20150910 4
Skeletal dysplasias are highly variable Mendelian phenotypes. Molecular diagnosis of skeletal dysplasias is complicated by their extreme clinical and genetic heterogeneity. We describe a clinically recognizable autosomal-recessive disorder in four affected siblings from a consanguineous Saudi family, comprising progressive spondyloepimetaphyseal dysplasia, short stature, facial dysmorphism, short fourth metatarsals, and intellectual disability. Combined autozygome/exome analysis identified a hom ...[more]