(Q34145662)

31 July 2017

0 references

Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter (English)

1 reference

terminal osseous dysplasia with pigmentary defects

31 July 2017

main subject

0 references

6

H Y Zoghbi

1 reference

31 July 2017

W Zhang

1

1 reference

31 July 2017

R Amir

2

1 reference

31 July 2017

D W Stockton

3

1 reference

31 July 2017

I B Van Den Veyver

4

1 reference

31 July 2017

C A Bacino

5

1 reference

31 July 2017

language of work or name

English

0 references

publication date

17 March 2000

1 reference

American Journal of Human Genetics

31 July 2017

published in

1 reference

31 July 2017

volume

66

1 reference

31 July 2017

issue

4

1 reference

31 July 2017

page(s)

1461-1464

1 reference

Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com

31 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=1288215

The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288215

Reconstructing the history of human limb development: lessons from birth defects

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288215

A syndrome of digital fibromas, facial pigmentary dysplasia, and metacarpal and metatarsal disorganization

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288215

Recurring digital fibroma of infancy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288215

Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288215

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288215

Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288215

Avoiding recomputation in linkage analysis.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288215

28 October 2018

Identifiers

DOI

10.1086/302868

1 reference

31 July 2017

1 reference

31 July 2017

1 reference