(Q28206815)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11891678%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

title

Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11891678%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

author

Valérie Cormier-Daire

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11891678%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

Celine Huber

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11891678%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

author name string

A Munnich

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11891678%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

language of work or name

English

0 references

publication date

1 January 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11891678%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

8 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11891678%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

volume

106

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11891678%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11891678%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

page(s)

272-274

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11891678%20AND%20SRC:MED&resulttype=core&format=json

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

8 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10228

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10228

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.10228

PHOG, a candidate gene for involvement in the short stature of Turner syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10228

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.10228

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.10228

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.10228

Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10228

X/Y translocation in a family with Leri-Weill dyschondrosteosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10228

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10228

Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10228

Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10228

21 January 2018

Identifiers

DOI

10.1002/AJMG.10228

2 references

Consolidated OpenCitations Corpus – April 2017

4725238

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11891678%20AND%20SRC:MED&resulttype=core&format=json

release_ow6wi2xwungsparfsxwktxgfpq

8 December 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ow6wi2xwungsparfsxwktxgfpq

mapped directly with Wikidata item

24 November 2022

based on heuristic

4725238

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

4725238