Ontology highlight
ABSTRACT:
SUBMITTER: Smaili W
PROVIDER: S-EPMC5415804 | biostudies-literature | 2017 May
REPOSITORIES: biostudies-literature
Smaili W W Elalaoui S Chafai SC Meier S S Zerkaoui M M Sefiani A A Heinimann K K
BMC medical genetics 20170503 1
<h4>Background</h4>Tricho-rhino-phalangeal syndrome (TRPS) is an autosomal dominant disorder characterized by craniofacial and skeletal malformations including short stature, thin scalp hair, sparse lateral eyebrows, pear-shaped nose and cone shaped epiphyses. This condition is caused by haploinsufficiency of the TRPS1 gene. Previous genotype-phenotype studies have correlated exon 6 missense mutations with TRPS type III, a severe form of type I with pronounced, facial characteristics, short stat ...[more]