(Q33673242)

28 July 2017

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title

Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). (English)

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spondyloepimetaphyseal dysplasia

28 July 2017

main subject

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Beighton P

1

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28 July 2017

language of work or name

English

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publication date

1 February 1994

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

31

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28 July 2017

issue

2

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28 July 2017

page(s)

136-140

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Spondylo-epi-metaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis.

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049676

Spondylo-epimetaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. A potentially lethal dwarfing disorder.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049676

Radiographic features of spondylo-epimetaphyseal dysplasia with joint laxity and progressive kyphoscoliosis. Review of 19 cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049676

Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049676

The ancestry of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in South Africa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049676

International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049676

The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049676

30 October 2018

Identifiers

DOI

10.1136/JMG.31.2.136

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28 July 2017

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28 July 2017

1 reference