|
rs1555575085
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Severe hypotonia and postnatal growth impairment in a girl with a missense mutation in COL1A1: Implication of expanded phenotypic spectrum of type I collagenopathy.
|
28668235 |
2017 |
|
rs1555575085
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?
|
24891183 |
2015 |
|
rs1555575085
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Osteogenesis imperfecta: diagnosis and treatment.
|
24964776 |
2014 |
|
rs1555575085
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment.
|
24715559 |
2014 |
|
rs1555575085
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Caffey disease: new perspectives on old questions.
|
24389367 |
2014 |
|
rs1555575085
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Infantile cortical hyperostosis (Caffey disease): a case report and review of the literature--where are we after 70 years?
|
23522764 |
2013 |
|
rs1555575085
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Intravenous pamidronate treatment in children with moderate-to-severe osteogenesis imperfecta started under three years of age.
|
23735642 |
2013 |
|
rs1555575085
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.
|
21801164 |
2012 |
|
rs1555575085
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Caffey disease in neonatal period: the importance of the family!
|
23047998 |
2012 |
|
rs1555575085
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Osteogenesis Imperfecta: A Review with Clinical Examples.
|
22570641 |
2011 |
|
rs1555575085
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.
|
21344539 |
2011 |
|
rs1555575085
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
A rare variant of Caffey's disease - X-rays, bone scan and FDG PET findings.
|
22174522 |
2011 |
|
rs1555575085
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I.
|
20087402 |
2010 |
|
rs1555575085
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
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.
|
17078022 |
2007 |
|
rs1555575085
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.
|
15864348 |
2005 |
|
rs1555575085
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.
|
10739762 |
2000 |
|
rs1555575085
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Ehlers-Danlos syndrome type VII: clinical features and molecular defects.
|
10073586 |
1999 |
|
rs1555575085
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
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.
|
9295084 |
1997 |
|
rs1555575085
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Heterogeneity of osteogenesis imperfecta type I.
|
6876111 |
1983 |
|
rs1555575085
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Infantile cortical hyperostosis; a review of the clinical and radiographic features.
|
13431894 |
1957 |