Article
CLARITY: Co-occurrences in achondroplasia-craniosynostosis, seizures, and decreased risk of diabetes mellitus.
American journal of medical genetics. Part A - 1 Apr 2021
Legare Janet M, Pauli Richard M, Hecht Jacqueline T, Bober Michael B, Smid Cory J, Modaff Peggy, Little Mary Ellen, Rodriguez-Buritica David F, Serna Maria Elena, Alade Adekemi Yewande, Liu Chengxin, Hoover-Fong Julie E, Hashmi S Shahrukh
Abstract excerpt
Achondroplasia is the most common disproportionate short statured skeletal dysplasia with a prevalence of approximately 1:20,000-30,000. We created the largest database to date of a historical cohort of 1374 patients with achondroplasia (CLARITY-aChondropLasia nAtuRal hIsTory studY). This cohort was queried for the presence of unrecognized or under-recognized features associated with achondroplasia....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
