Cardiofaciocutaneous syndrome with new ectodermal manifestations (Q33594148)

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scientific article published on June 1, 1992

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Language	Label	Description	Also known as
English	Cardiofaciocutaneous syndrome with new ectodermal manifestations	scientific article published on June 1, 1992

Statements

instance of

scholarly article

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1619641

retrieved

28 July 2017

title

Cardiofaciocutaneous syndrome with new ectodermal manifestations (English)

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1619641

retrieved

28 July 2017

main subject

cardiofaciocutaneous syndrome

1 reference

based on heuristic

inferred from title

skin pigmentation

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1619641

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1619641

retrieved

16 October 2022

genetics

1 reference

stated in

Crossref

DOI

10.1136/JMG.29.6.428

reference URL

https://api.crossref.org/works/10.1136/JMG.29.6.428

retrieved

16 October 2022

author name string

P. D. Turnpenny

series ordinal

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1619641

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1619641

retrieved

16 October 2022

J. C. Dean

series ordinal

2

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1619641

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1619641

retrieved

16 October 2022

I. A. Auchterlonie

series ordinal

3

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1619641

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1619641

retrieved

16 October 2022

A. W. Johnston

series ordinal

4

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1619641

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1619641

retrieved

16 October 2022

language of work or name

English

0 references

publication date

1 June 1992

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1619641

retrieved

28 July 2017

full work available at URL

https://europepmc.org/articles/PMC1015998

file format

HTML

online access status

open access

content deliverer

Europe PubMed Central

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1619641

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1619641

retrieved

16 October 2022

https://europepmc.org/articles/PMC1015998?pdf=render

file format

Portable Document Format

online access status

open access

content deliverer

Europe PubMed Central

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1619641

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1619641

retrieved

16 October 2022

https://syndication.highwire.org/content/doi/10.1136/jmg.29.6.428

1 reference

stated in

Crossref

DOI

10.1136/JMG.29.6.428

reference URL

https://api.crossref.org/works/10.1136/JMG.29.6.428

retrieved

16 October 2022

published in

Journal of Medical Genetics

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1619641

retrieved

28 July 2017

volume

29

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1619641

retrieved

28 July 2017

issue

6

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1619641

retrieved

28 July 2017

page(s)

428-429

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1619641

retrieved

28 July 2017

cites work

Individualization of a syndrome with mental deficiency, macrocranium, peculiar facies, and cardiac and skeletal anomalies.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015998

retrieved

21 June 2018

New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015998

retrieved

21 June 2018

A Noonan-like short stature syndrome with sparse hair.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015998

retrieved

21 June 2018

CFC syndrome: a syndrome distinct from Noonan syndrome.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015998

retrieved

21 June 2018

CFC syndrome: report on three additional cases.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015998

retrieved

21 June 2018

A case of cardio-facio-cutaneous syndrome.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015998

retrieved

21 June 2018

Cardio-facio-cutaneous (CFC) syndrome: report of a new patient.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015998

retrieved

21 June 2018

Cardio-facio cutaneous syndrome: neurological manifestations

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015998

retrieved

21 June 2018

The cardio-facio-cutaneous (CFC) syndrome and Noonan syndrome: are they the same?

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015998

retrieved

21 June 2018

The CFC syndrome--report of the first two cases outside the United States.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015998

retrieved

30 October 2018

Noonan syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1619641

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1136/JMG.29.6.428

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1619641

retrieved

28 July 2017

PMC publication ID

1015998

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1619641

retrieved

28 July 2017

PubMed publication ID

1619641

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1619641

retrieved

28 July 2017

ResearchGate publication ID

21535374

0 references

 

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