Article
Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation.
American journal of medical genetics. Part A - 1 Nov 2016
Boone Philip M, Chan Yiu Man, Hunter Jill V, Pottkotter Louis E, Davino Nelson A, Yang Yaping, Beuten Joke, Bacino Carlos A
Abstract excerpt
Haploinsufficiency of SATB2 causes cleft palate, intellectual disability with deficient speech, facial and dental abnormalities, and other variable features known collectively as SATB2-associated syndrome. This phenotype was accompanied by osteoporosis, fractures, and tibial bowing in two previously reported adult patients; each possessed SATB2 mutations either predicted or demonstrated to escape...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.