Background: Heterozygous mutations in the COL1A1 or COL1A2 gene encoding the alpha 1 and alpha 2 chain of type I collagen generally cause either osteogenesis imperfecta or the arthrochalasis form of Ehlers-Danlos syndrome (EDS). Homozygous or compound heterozygous COL1A2 mutations resulting in complete deficiency of the pro alpha 2(I) collagen chains are extremely rare and have been reported in only a few patients, albeit with variable phenotypic outcome. Methods: The clinical features of the proband, a 6 year old boy, were recorded. Analysis of pro alpha and alpha-collagen chains was performed by SDS-polyacrylamide gel electrophoresis using the Laemmli buffer system. Single stranded conformation polymorphism analysis of the proband's DNA ...
Type II Ehlers-Danlos syndrome (EDS) is one of a group of disorders characterized by striking abnorm...
Splice site mutations in the COL1A2 gene of type I collagen can give rise to forms of Ehlers-Danlos ...
: Ehlers Danlos syndrome (EDS) athrocalasia type (type VII), is characterized by joint hypermobility...
Background: Heterozygous mutations in the COL1A1 or COL1A2 gene encoding the alpha 1 and alpha 2 cha...
Classic Ehlers-Danlos syndrome (EDS) is characterized by fragile and hyperextensible skin, atrophic ...
Classical Ehlers-Danlos syndrome (cEDS) is a rare connective tissue disorder primarily characterized...
Mutations in the COL1A1 and COL1A2 genes, encoding the proalpha1 and 2 chains of type I collagen, ca...
Mutations in the COL1A1 and COL1A2 genes, encoding the pro alpha 1 and 2 chains of type I collagen, ...
The Ehlers-Danlos syndrome (EDS) is a heterogeneous connective-tissue disorder of which at least nin...
Classic Ehlers-Danlos syndrome is a heritable connective tissue disorder characterized by skin hyper...
Classical Ehlers-Danlos syndrome (EDS) is characterized by skin hyperelasticity, joint hypermobility...
Classical Ehlers-Danlos syndrome (EDS) is characterized by skin hyperelasticity, joint hypermobility...
Background: Vascular Ehlers–Danlos syndrome (vEDS) is a heritable connective tissue disorder caused ...
We have identified haploinsufficiency of the COL5A1 gene that encodes the proα1(V) chain of type V c...
Ehlers Danlos syndrome (EDS) athrocalasia type (type VII), is characterized by joint hypermobility, ...
Type II Ehlers-Danlos syndrome (EDS) is one of a group of disorders characterized by striking abnorm...
Splice site mutations in the COL1A2 gene of type I collagen can give rise to forms of Ehlers-Danlos ...
: Ehlers Danlos syndrome (EDS) athrocalasia type (type VII), is characterized by joint hypermobility...
Background: Heterozygous mutations in the COL1A1 or COL1A2 gene encoding the alpha 1 and alpha 2 cha...
Classic Ehlers-Danlos syndrome (EDS) is characterized by fragile and hyperextensible skin, atrophic ...
Classical Ehlers-Danlos syndrome (cEDS) is a rare connective tissue disorder primarily characterized...
Mutations in the COL1A1 and COL1A2 genes, encoding the proalpha1 and 2 chains of type I collagen, ca...
Mutations in the COL1A1 and COL1A2 genes, encoding the pro alpha 1 and 2 chains of type I collagen, ...
The Ehlers-Danlos syndrome (EDS) is a heterogeneous connective-tissue disorder of which at least nin...
Classic Ehlers-Danlos syndrome is a heritable connective tissue disorder characterized by skin hyper...
Classical Ehlers-Danlos syndrome (EDS) is characterized by skin hyperelasticity, joint hypermobility...
Classical Ehlers-Danlos syndrome (EDS) is characterized by skin hyperelasticity, joint hypermobility...
Background: Vascular Ehlers–Danlos syndrome (vEDS) is a heritable connective tissue disorder caused ...
We have identified haploinsufficiency of the COL5A1 gene that encodes the proα1(V) chain of type V c...
Ehlers Danlos syndrome (EDS) athrocalasia type (type VII), is characterized by joint hypermobility, ...
Type II Ehlers-Danlos syndrome (EDS) is one of a group of disorders characterized by striking abnorm...
Splice site mutations in the COL1A2 gene of type I collagen can give rise to forms of Ehlers-Danlos ...
: Ehlers Danlos syndrome (EDS) athrocalasia type (type VII), is characterized by joint hypermobility...