A novel pathogenic variant at the C-terminal propeptide cleavage site of COL1A1, causing osteogenesis imperfecta with intrafamilial variability

Saved in:
Bibliographic Details
Published inAmerican journal of medical genetics. Part A Vol. 188; no. 6; pp. 1885 - 1889
Main Authors Lang, Steven H, Gallo, Ryan A, ghani, Irman
Format Report
LanguageEnglish
Published 01.06.2022
Online AccessGet full text

Cover

More Information
Bibliography:ObjectType-Case Study-2
content type line 59
SourceType-Reports-1
ObjectType-Report-1
ISSN:1552-4833
DOI:10.1002/ajmg.a.62712