Alhamdi S

ORCID: 0000-0003-4113-5879 · 1 paper in corpus · active 2018
2018
Heterozygous WNT1 variant causing a variable bone phenotype.
American journal of medical genetics. Part A ·doi:10.1002/ajmg.a.40347

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-functi…