CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase (Q73532016)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10710233 AND SRC:MED&resulttype=core&format=json

4 November 2019

title

CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10710233 AND SRC:MED&resulttype=core&format=json

4 November 2019

1 reference

1 reference

D K Grange

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10710233 AND SRC:MED&resulttype=core&format=json

4 November 2019

L E Kratz

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10710233 AND SRC:MED&resulttype=core&format=json

4 November 2019

N E Braverman

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10710233 AND SRC:MED&resulttype=core&format=json

4 November 2019

R I Kelley

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10710233 AND SRC:MED&resulttype=core&format=json

4 November 2019

publication date

1 February 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10710233 AND SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

4 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10710233 AND SRC:MED&resulttype=core&format=json

4 November 2019

volume

90

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10710233 AND SRC:MED&resulttype=core&format=json

4 November 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10710233 AND SRC:MED&resulttype=core&format=json

4 November 2019

page(s)

328-335

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10710233 AND SRC:MED&resulttype=core&format=json

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome

4 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(20000214)90:4<328::AID-AJMG13>3.0.CO;2-F

Teratogen-mediated inhibition of target tissue response to Shh signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(20000214)90:4<328::AID-AJMG13>3.0.CO;2-F

Conradi-Hünermann syndrome with unilateral distribution

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(20000214)90:4<328::AID-AJMG13>3.0.CO;2-F

CHILD syndrome: lack of expression of epidermal differentiation markers in lesional ichthyotic skin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(20000214)90:4<328::AID-AJMG13>3.0.CO;2-F

Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. [email protected]

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(20000214)90:4<328::AID-AJMG13>3.0.CO;2-F

Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(20000214)90:4<328::AID-AJMG13>3.0.CO;2-F

CHILD syndrome. Phenotypic dichotomy in eicosanoid metabolism and proliferative rates among cultured dermal fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(20000214)90:4<328::AID-AJMG13>3.0.CO;2-F

X-linked dominant chondrodysplasia punctata. Review of literature and report of a case

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(20000214)90:4<328::AID-AJMG13>3.0.CO;2-F

The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(20000214)90:4<328::AID-AJMG13>3.0.CO;2-F

The CHILD nevus: a distinct skin disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(20000214)90:4<328::AID-AJMG13>3.0.CO;2-F

X‐linked dominant chondrodysplasia punctata/ichthyosis/cataract syndrome in males

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(20000214)90:4<328::AID-AJMG13>3.0.CO;2-F

21 January 2018

CHILD syndrome in a boy

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(20000214)90:4<328::AID-AJMG13>3.0.CO;2-F

CHILD syndrome: analysis of abnormal keratinization and ultrastructure

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(20000214)90:4<328::AID-AJMG13>3.0.CO;2-F

CHILD syndrome with linear eruptions, hypopigmented bands, and verruciform xanthoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(20000214)90:4<328::AID-AJMG13>3.0.CO;2-F

Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(20000214)90:4<328::AID-AJMG13>3.0.CO;2-F

Abnormal sterol metabolism in patients with Conradi-Hünermann-Happle syndrome and sporadic lethal chondrodysplasia punctata

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(20000214)90:4<328::AID-AJMG13>3.0.CO;2-F

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(20000214)90:4<328::AID-AJMG13>3.0.CO;2-F

Differences in left-right axis pathways in mouse and chick: functions of FGF8 and SHH

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(20000214)90:4<328::AID-AJMG13>3.0.CO;2-F

Another CHILD syndrome with xanthomatous pattern.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(20000214)90:4<328::AID-AJMG13>3.0.CO;2-F

10.1002/(SICI)1096-8628(20000214)90:4<328::AID-AJMG13>3.0.CO;2-F

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10710233 AND SRC:MED&resulttype=core&format=json

4 November 2019

1 reference