Ontology highlight
ABSTRACT:
SUBMITTER: Yamamoto GL
PROVIDER: S-EPMC3882913 | biostudies-literature | 2014 Jan
REPOSITORIES: biostudies-literature
American journal of human genetics 20140101 1
Spondylometaphyseal dysplasia with cone-rod dystrophy is a rare autosomal-recessive disorder characterized by severe short stature, progressive lower-limb bowing, flattened vertebral bodies, metaphyseal involvement, and visual impairment caused by cone-rod dystrophy. Whole-exome sequencing of four individuals affected by this disorder from two Brazilian families identified two previously unreported homozygous mutations in PCYT1A. This gene encodes the alpha isoform of the phosphate cytidylyltran ...[more]