COL1-Related Disorders: Case Report and Review of Overlapping Syndromes
Published 2021 View Full Article
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Title
COL1-Related Disorders: Case Report and Review of Overlapping Syndromes
Authors
Keywords
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Journal
Frontiers in Genetics
Volume 12, Issue -, Pages -
Publisher
Frontiers Media SA
Online
2021-05-07
DOI
10.3389/fgene.2021.640558
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Note: Only part of the references are listed.- Genotype–phenotype correlation study in 364 osteogenesis imperfecta Italian patients
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- Compound phenotype of osteogenesis imperfecta and Ehlers–Danlos syndrome caused by combined mutations in COL1A1 and COL5A1
- (2019) Zejia Lin et al. BIOSCIENCE REPORTS
- A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1
- (2019) June Duong et al. European Journal of Medical Genetics
- Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome
- (2019) Lucia Micale et al. Genes
- COL1 ‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap
- (2019) Silvia Morlino et al. CLINICAL GENETICS
- VarSome: the human genomic variant search engine
- (2018) Christos Kopanos et al. BIOINFORMATICS
- Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation inCOL1A1: Report on a three-generation family without cardiovascular events, and literature review
- (2016) Marina Colombi et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients
- (2016) S. Demirdas et al. CLINICAL GENETICS
- Osteogenesis imperfecta
- (2016) Antonella Forlino et al. LANCET
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment
- (2014) F.S. Van Dijk et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome
- (2013) Fransiska Malfait et al. Orphanet Journal of Rare Diseases
- Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
- (2011) Shawna M Pyott et al. GENETICS IN MEDICINE
- Osteogenesis Imperfecta and Aortic Dissection
- (2009) Shawn Chillag et al. AMERICAN JOURNAL OF THE MEDICAL SCIENCES
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