(Q54410439)

29 May 2018

title

PORCN Mutations and Variants Identified in Patients with Focal Dermal Hypoplasia Through Diagnostic Gene Sequencing (English)

1 reference

https://api.crossref.org/works/10.1089/GTMB.2010.0089

16 July 2024

main subject

focal dermal hypoplasia

1 reference

Shu Wen

2

1 reference

29 May 2018

Vernon Reid Sutton

3

1 reference

29 May 2018

Ping Fang

6

1 reference

29 May 2018

Priscilla H. Fernandes

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20854095

16 July 2024

Patricia A. Ward

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20854095

16 July 2024

Ignatia B. Van den Veyver

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20854095

16 July 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20854095

16 July 2024

publication date

20 September 2010

1 reference

29 May 2018

full work available at URL

https://www.liebertpub.com/doi/pdf/10.1089/gtmb.2010.0089

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20854095

http://www.liebertpub.com/doi/full-xml/10.1089/gtmb.2010.0089

16 July 2024

1 reference

https://api.crossref.org/works/10.1089/GTMB.2010.0089

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2010.0089

16 July 2024

1 reference

https://api.crossref.org/works/10.1089/GTMB.2010.0089

Genetic Testing and Molecular Biomarkers

16 July 2024

published in

1 reference

29 May 2018

volume

14

1 reference

29 May 2018

issue

5

1 reference

29 May 2018

page(s)

709-713

1 reference

29 May 2018

PORCN mutations in focal dermal hypoplasia: coping with lethality

cites work

1

1 reference

https://api.crossref.org/works/10.1089/GTMB.2010.0089

Molecular cloning and initial characterization of the MG61/PORC gene, the human homologue of the Drosophila segment polarity gene Porcupine

16 July 2024

2

1 reference

https://api.crossref.org/works/10.1089/GTMB.2010.0089

PORCN gene mutations and the protean nature of focal dermal hypoplasia.

16 July 2024

3

1 reference

https://api.crossref.org/works/10.1089/GTMB.2010.0089

Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene.

16 July 2024

4

1 reference

https://api.crossref.org/works/10.1089/GTMB.2010.0089

Novel PORCN mutations in focal dermal hypoplasia.

16 July 2024

5

1 reference

https://api.crossref.org/works/10.1089/GTMB.2010.0089

Focal dermal hypoplasia syndrome. An update

16 July 2024

6

1 reference

https://api.crossref.org/works/10.1089/GTMB.2010.0089

Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.

16 July 2024

8

1 reference

https://api.crossref.org/works/10.1089/GTMB.2010.0089

Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap

16 July 2024

9

1 reference

https://api.crossref.org/works/10.1089/GTMB.2010.0089

Three novel mutations in the PORCN gene underlying focal dermal hypoplasia

16 July 2024

10

1 reference

https://api.crossref.org/works/10.1089/GTMB.2010.0089

Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome.

16 July 2024

11

1 reference

https://api.crossref.org/works/10.1089/GTMB.2010.0089

Syringocystadenoma papilliferum in a patient with focal dermal hypoplasia due to a novel PORCN mutation.

16 July 2024

12

1 reference

https://api.crossref.org/works/10.1089/GTMB.2010.0089

Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia

16 July 2024

13

1 reference

https://api.crossref.org/works/10.1089/GTMB.2010.0089

16 July 2024

Identifiers

1 reference

29 May 2018

1 reference

29 May 2018