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
Integrative analysis reveals clinically relevant molecular fingerprints in pancreatic cancer.
Song L et al.
Molecular Therapy. Nucleic Acids, 2021
34513290 (PubMed )
Supplement: mmc3.xlsx › Table_S3
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
Recurrence of perinatal lethal osteogenesis imperfecta in sibships: parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance.
Pyott SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2011
Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients.
Kataoka K et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2007
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