(Q43223094)

16 November 2017

A second recombination hotspot associated with SHOX deletions (English)

1 reference

16 November 2017

1

1 reference

16 November 2017

Purita Ramos

2

1 reference

PMCID

1380296

16 November 2017

Judith L Ross

series ordinal

3

1 reference

PMCID

1380296

16 November 2017

language of work or name

English

0 references

publication date

1 March 2006

1 reference

American Journal of Human Genetics

16 November 2017

1 reference

16 November 2017

78

1 reference

16 November 2017

3

1 reference

16 November 2017

523-525

1 reference

Identification of a major recombination hotspot in patients with short stature and SHOX deficiency

16 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380296

Segmental duplications and copy-number variation in the human genome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380296

The Turner syndrome-associated neurocognitive phenotype maps to distal Xp

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380296

Gene duplications as a recurrent theme in the evolution of the human pseudoautosomal region 1: isolation of the gene ASMTL

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380296

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380296

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380296

Phenotypes Associated with SHOX Deficiency

25 May 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16572514

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A man who inherited hisSRY gene and Leri-Weill dyschondrosteosis from his mother and neurofibromatosis type 1 from his father

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16572514

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16572514

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/500958

1 reference

16 November 2017

1 reference

16 November 2017

1 reference

PMCID

1380296