Lethal osteogenesis imperfecta with amniotic band lesions: Collagen studies
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference26 articles.
1. Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta.
2. Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta.
3. Abnormal type I collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta
4. CONGENITAL ABNORMALITIES ASSOCIATED WITH MATERNAL CLOMIPHENE INGESTION
5. Osteogenesis Imperfecta: A Report of a Case of the Congenital Form
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1. Amniotic band sequence in vascular Ehlers-Danlos Syndrome (EDS): Experience of the EDS National Diagnostic Services in the UK;European Journal of Medical Genetics;2022-10
2. Infrequent association of two rare diseases: amniotic band syndrome and osteogenesis imperfecta;Case Reports in Perinatal Medicine;2021-01-01
3. Osteogenesis imperfecta type IIa with pseudoanencephaly;Clinical Dysmorphology;2008-10
4. Maladie des brides amniotiques : étiopathogénie, diagnostic anténatal et prise en charge néonatale;La Revue Sage-Femme;2004-04
5. Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile;Clinical Genetics;2003-03
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