(Q24310667)

English

Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene

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scholarly article

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Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene (English)

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Collagen type XI alpha 2 chain

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GOA release 2020-03-11

cartilage development

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GOA release 2020-03-11

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inferred from title

author name string

M A van Steensel

1

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P Buma

2

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M C de Waal Malefijt

3

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F H van den Hoogen

4

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H G Brunner

5

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language of work or name

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publication date

13 June 1997

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American Journal of Medical Genetics Part A

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70

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3

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315-23

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Ultrastructural localization of collagen types II, IX, and XI in the growth plate of human rib and fetal bovine epiphyseal cartilage: type XI collagen is restricted to thin fibrils

1 reference

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21 January 2018

Hereditary hearing loss with saddle-nose and myopia.

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7 January 2021

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Atelosteogenesis

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7 January 2021

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Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome.

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7 January 2021

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Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II.

1 reference

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7 January 2021

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Marshall syndrome

1 reference

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7 January 2021

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Bone dysplasia, midface hypoplasia, and deafness: three new patients and review of the literature

1 reference

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7 January 2021

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A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis

1 reference

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7 January 2021

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Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

1 reference

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7 January 2021

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Megepiphyseal dwarfism

1 reference

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The Marshall syndrome: report of a new family

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Structural analysis of cross-linking domains in cartilage type XI collagen. Insights on polymeric assembly

1 reference

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7 January 2021

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A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene

1 reference

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7 January 2021

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Epiphyseal dysplasia of the femoral head, severe myopia and perceptive hearing loss in three brothers

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7 January 2021

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Abnormal Facies, Myopia, and Short Stature

1 reference

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7 January 2021

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The Marshall and Stickler syndromes: objective rejection of lumping.

1 reference

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7 January 2021

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A computerised data base for the diagnosis of rare dysmorphic syndromes

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7 January 2021

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A family with spondyloepimetaphyseal dwarfism: a 'new' dysplasia or Kniest disease with autosomal recessive inheritance?

1 reference

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7 January 2021

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Epiphyseal dysplasia of the femoral head, mild vertebral abnormality, myopia, and sensorineural deafness: report of a pedigree with autosomal dominant inheritance

1 reference

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7 January 2021

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A bone dysplasia with deafness

1 reference

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7 January 2021

based on heuristic

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POSSUM: the microcomputer laser-videodisk syndrome information system

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/(SICI)1096-8628(19970613)70:3<315::AID-AJMG19>3.0.CO;2-O

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release_czqhrcjkl5e3lmyblzzds5iuku

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PubMed publication ID

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