CompleteSHOX deficiency causes Langer mesomelic dysplasia (Q57828223)

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10 November 2019

title

Complete SHOX deficiency causes Langer mesomelic dysplasia (English)

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10 November 2019

1

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10 November 2019

author name string

Fanglin Wei

2

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10 November 2019

Ling Zhang

3

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10 November 2019

Pia Marttila

6

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10 November 2019

Frederick F Elder

4

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10 November 2019

Charles I Scott

5

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10 November 2019

Judith L Ross

7

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10 November 2019

publication date

1 June 2002

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American Journal of Medical Genetics Part A

10 November 2019

published in

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volume

110

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issue

2

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10 November 2019

page(s)

158-163

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SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

10 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10422

The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10422

Langer type of mesomelic dwarfism as the possible homozygous expression of dyschondrosteosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10422

Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10422

SHOX haploinsufficiency and overdosage: impact of gonadal function status.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10422

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10422

Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10422

Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10422

Analysis of short stature homeobox-containing gene ( SHOX ) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10422

21 January 2018

Identifiers

DOI

10.1002/AJMG.10422

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10 November 2019

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