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Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene

Ophthalmic genetics, 2021-04, Vol.42 (2), p.161-169

2021

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Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene

Ophthalmic Genetics, 2021, Vol.42 (2), p.161-169

2021

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A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome

American journal of medical genetics. Part A, 2011-07, Vol.155A (7), p.1668-1672

2011

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Association between COL9A2 Gln326Arg mutations and the development of intervertebral disc disease in a Chinese population

Genetics and molecular research, 2016-12, Vol.15 (4)

2016

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Sequence variations in the collagen IX and XI genes are associated with degenerative lumbar spinal stenosis

Annals of the rheumatic diseases, 2003-12, Vol.62 (12), p.1208-1214

2003

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Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia

Nature genetics, 2001-08, Vol.28 (4), p.393-396

2001

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Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis

Best practice & research. Clinical rheumatology, 2008-03, Vol.22 (1), p.19-32

2008

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Analysis of COL9A2 gene mutations in a Chinese Han population with pathological myopia

Zhonghua yi xue yi chuan xue za zhi, 2014-04, Vol.31 (2), p.129

2014

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Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations

European journal of human genetics : EJHG, 2005-03, Vol.13 (3), p.292-301

2005

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Absence of the mutated Trp2 allele but a common polymorphism of the COL9A2 collagen gene is associated with early recurrence after lumbar discectomy in a German population

European spine journal, 2008-03, Vol.17 (3), p.463-467

2008

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Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2)

Clinical rheumatology, 2006-07, Vol.25 (4), p.591-595

2006

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Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2)

American journal of medical genetics, 2002-10, Vol.112 (2), p.144-153

2002

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Col9a2
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Osteochondrodysplasias - Genetics
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Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene

Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene

A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome

Association between COL9A2 Gln326Arg mutations and the development of intervertebral disc disease in a Chinese population

Sequence variations in the collagen IX and XI genes are associated with degenerative lumbar spinal stenosis

Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia

Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis

Analysis of COL9A2 gene mutations in a Chinese Han population with pathological myopia

Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations

Absence of the mutated Trp2 allele but a common polymorphism of the COL9A2 collagen gene is associated with early recurrence after lumbar discectomy in a German population

Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2)

Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2)

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