Ontology highlight
ABSTRACT:
SUBMITTER: Symoens S
PROVIDER: S-EPMC3850743 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Symoens Sofie S Malfait Fransiska F D'hondt Sanne S Callewaert Bert B Dheedene Annelies A Steyaert Wouter W Bächinger Hans Peter HP De Paepe Anne A Kayserili Hulya H Coucke Paul J PJ
Orphanet journal of rare diseases 20130930
Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous brittle bone disorder. Whereas dominant OI is mostly due to heterozygous mutations in either COL1A1 or COL1A2, encoding type I procollagen, recessive OI is caused by biallelic mutations in genes encoding proteins involved in type I procollagen processing or chaperoning. Hitherto, some OI cases remain molecularly unexplained. We detected a homozygous genomic deletion of CREB3L1 in a family with severe OI. CREB3L1 encodes O ...[more]