A family with homozygous and heterozygous p.Gly337Ser mutations in COL1A2.

This study reports the eighth child with OI and the homozygous mutation in COL1A2; and the first two individuals with the heterozygous p.Gly337Ser mutation in COL1A2 causing an isolated DI without OI. PMID: 32081708 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/32081708?dopt=Abstract

Source: European Journal of Medical Genetics - February 16, 2020 Category: Genetics & Stem Cells Authors: Udomchaiprasertkul W, Kuptanon C, Porntaveetus T, Shotelersuk V Tags: Eur J Med Genet Source Type: research