A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature-Reference-Cited by-同舟云学术

A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature

Published:2019-07 Issue:3 Volume:28 Page:118-123
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Lim Jiin Ying,Bhatia Neha Singh,Vasanwala Rashida Farhad,Chay Pui Ling,Lim Kevin Boon Leong,Khoo Poh Choo,Schwarze Ulrike,Jamuar Saumya Shekhar

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics(clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology, and Child Health

Reference20 articles.

1. Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen.;Byers;Am J Hum Genet,1988

2. A single recurrent mutation in the 5’-UTR of IFITM5 causes osteogenesis imperfecta type V.;Cho;Am J Hum Genet,2012

3. Dental and craniofacial characteristics caused by the p.ser40leu mutation in IFITM5.;Dagdeviren;Am J Med Genet A,2019

4. A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor.;Farber;J Bone Miner Res,2014

5. New perspectives on osteogenesis imperfecta.;Forlino;Nat Rev Endocrinol,2011

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