Ontology highlight
ABSTRACT:
SUBMITTER: Johnston JJ
PROVIDER: S-EPMC4564935 | biostudies-literature | 2015 Sep
REPOSITORIES: biostudies-literature
Johnston Jennifer J JJ Sanchez-Contreras Monica Y MY Keppler-Noreuil Kim M KM Sapp Julie J Crenshaw Molly M Finch NiCole A NA Cormier-Daire Valerie V Rademakers Rosa R Sybert Virginia P VP Biesecker Leslie G LG
American journal of human genetics 20150813 3
Penttinen syndrome is a distinctive disorder characterized by a prematurely aged appearance with lipoatrophy, epidermal and dermal atrophy along with hypertrophic lesions that resemble scars, thin hair, proptosis, underdeveloped cheekbones, and marked acro-osteolysis. All individuals have been simplex cases. Exome sequencing of an affected individual identified a de novo c.1994T>C p.Val665Ala variant in PDGFRB, which encodes the platelet-derived growth factor receptor β. Three additional unrelat ...[more]