(Q42539551)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11484156%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

title

Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11484156%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference

hypohidrotic ectodermal dysplasia

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11484156%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

author name string

Kosaki K

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11484156%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Shimasaki N

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11484156%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Fukushima H

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11484156%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Hara M

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11484156%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Matsuo N

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11484156%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

language of work or name

English

0 references

publication date

1 September 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11484156%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

10 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11484156%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

volume

69

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11484156%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11484156%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

page(s)

664-666

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11484156%20AND%20SRC:MED&resulttype=core&format=json

Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma)

10 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235496

A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235496

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235496

Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235496

Incontinentia pigmenti (Bloch-Sulzberger syndrome).

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235496

Familial linear and whorled nevoid hypermelanosis

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235496

28 May 2018

Identifiers

DOI

10.1086/323003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11484156%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11484156%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

PubMed publication ID

11484156

1 reference