Variant: rs1555575085 

    present in Gene: COL1A1
    present in Chromosome: 17
    Position on Chromosome: 50199309
    Alleles of this Variant: C/A

rs1555575085 in COL1A1 gene and Dysmorphic features PMID 24964776 2014 Osteogenesis imperfecta: diagnosis and treatment.

PMID 23735642 2013 Intravenous pamidronate treatment in children with moderate-to-severe osteogenesis imperfecta started under three years of age.

PMID 24715559 2014 Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment.

PMID 28668235 2017 Severe hypotonia and postnatal growth impairment in a girl with a missense mutation in COL1A1: Implication of expanded phenotypic spectrum of type I collagenopathy.

PMID 24891183 2015 COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?

PMID 23522764 2013 Infantile cortical hyperostosis (Caffey disease): a case report and review of the literature--where are we after 70 years?

PMID 9295084 1997 Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.

PMID 6876111 1983 Heterogeneity of osteogenesis imperfecta type I.

PMID 24389367 2014 Caffey disease: new perspectives on old questions.

PMID 23047998 2012 Caffey disease in neonatal period: the importance of the family!

PMID 15864348 2005 A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.

PMID 22570641 2011 Osteogenesis Imperfecta: A Review with Clinical Examples.

PMID 17078022 2007 Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

PMID 10073586 1999 Ehlers-Danlos syndrome type VII: clinical features and molecular defects.

PMID 22174522 2011 A rare variant of Caffey's disease - X-rays, bone scan and FDG PET findings.

PMID 13431894 1957 Infantile cortical hyperostosis; a review of the clinical and radiographic features.

PMID 10739762 2000 Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.

PMID 21801164 2012 Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.

PMID 20087402 2010 Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I.

PMID 21344539 2011 COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.

rs1555575085 in COL1A1 gene and Muscle hypotonia PMID 15864348 2005 A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.

PMID 13431894 1957 Infantile cortical hyperostosis; a review of the clinical and radiographic features.

PMID 10739762 2000 Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.

PMID 17078022 2007 Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

PMID 10073586 1999 Ehlers-Danlos syndrome type VII: clinical features and molecular defects.

PMID 22174522 2011 A rare variant of Caffey's disease - X-rays, bone scan and FDG PET findings.

PMID 23735642 2013 Intravenous pamidronate treatment in children with moderate-to-severe osteogenesis imperfecta started under three years of age.

PMID 24964776 2014 Osteogenesis imperfecta: diagnosis and treatment.

PMID 24715559 2014 Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment.

PMID 28668235 2017 Severe hypotonia and postnatal growth impairment in a girl with a missense mutation in COL1A1: Implication of expanded phenotypic spectrum of type I collagenopathy.

PMID 20087402 2010 Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I.

PMID 23522764 2013 Infantile cortical hyperostosis (Caffey disease): a case report and review of the literature--where are we after 70 years?

PMID 21801164 2012 Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.

PMID 6876111 1983 Heterogeneity of osteogenesis imperfecta type I.

PMID 9295084 1997 Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.

PMID 24389367 2014 Caffey disease: new perspectives on old questions.

PMID 24891183 2015 COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?

PMID 21344539 2011 COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.

PMID 23047998 2012 Caffey disease in neonatal period: the importance of the family!

PMID 22570641 2011 Osteogenesis Imperfecta: A Review with Clinical Examples.