Ontology highlight
ABSTRACT:
SUBMITTER: Alhamdi S
PROVIDER: S-EPMC6289778 | biostudies-literature | 2018 Nov
REPOSITORIES: biostudies-literature
Alhamdi Shatha S Lee Yi-Chien YC Chowdhury Shimul S Byers Peter H PH Gottschalk Michael M Taft Ryan J RJ Joeng Kyu Sang KS Lee Brendan H BH Bird Lynne M LM
American journal of medical genetics. Part A 20180924 11
Osteogenesis imperfecta (OI) is a family of heritable disorders of bone fragility. Most individuals with OI have mutations in the genes encoding type I collagen; at least 17 other genes have been associated with OI. Biallelic loss-of-function mutations in WNT1 cause severe OI. Heterozygous missense variants in WNT1 are responsible for early-onset osteoporosis with variable bone phenotypes. Herein, we report a third-generation family with four affected individuals, some presenting with multiple l ...[more]