Associated Papers
Intersecting Pathologies: COL1A1-Related Syndrome in the Setting of Childhood-Onset Hypopituitarism: Case Report and Literature Review.
Pelineagră OE et al.
Diagnostics (basel, Switzerland), 2025
Clinical severity prediction in children with osteogenesis imperfecta caused by COL1A1/2 defects.
Yang L et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2022
35044492 (PubMed )
Supplement: 198_2021_6263_MOESM2_ESM.xlsx › COL1A1_HGMD_data
A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers-Danlos syndrome that proved to be a COL1-related overlap disorder.
Foy M et al.
Clinical Case Reports, 2021
Osteogenesis imperfecta type III/Ehlers-Danlos overlap syndrome in a Chinese man.
Lu Y et al.
Intractable & Rare Diseases Research, 2018
G76E substitution in type I collagen is the first nonlethal glutamic acid substitution in the alpha1(I) chain and alters folding of the N-terminal end of the helix.
Cabral WA et al.
Molecular Genetics and Metabolism, 2001
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