Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1 (Q28139353)

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scientific article (publication date: November 1999)

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Language	Label	Description	Also known as
English	Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1	scientific article (publication date: November 1999)

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instance of

scholarly article

1 reference

stated in

Europe PubMed Central

PubMed publication ID

10583221

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10583221%20AND%20SRC:MED&resulttype=core&format=json

retrieved

2 November 2019

title

Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1 (English)

1 reference

stated in

Europe PubMed Central

PubMed publication ID

10583221

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10583221%20AND%20SRC:MED&resulttype=core&format=json

retrieved

2 November 2019

main subject

Cerebellum

0 references

cerebellar hypoplasia

1 reference

based on heuristic

inferred from title

Hoyeraal-Hreidarsson syndrome

1 reference

based on heuristic

inferred from title

author

Peter Richmond

series ordinal

6

1 reference

stated in

Europe PubMed Central

PubMed publication ID

10583221

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10583221%20AND%20SRC:MED&resulttype=core&format=json

retrieved

2 November 2019

author name string

S W Knight

series ordinal

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

10583221

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10583221%20AND%20SRC:MED&resulttype=core&format=json

retrieved

2 November 2019

N S Heiss

series ordinal

2

1 reference

stated in

Europe PubMed Central

PubMed publication ID

10583221

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10583221%20AND%20SRC:MED&resulttype=core&format=json

retrieved

2 November 2019

T J Vulliamy

series ordinal

3

1 reference

stated in

Europe PubMed Central

PubMed publication ID

10583221

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10583221%20AND%20SRC:MED&resulttype=core&format=json

retrieved

2 November 2019

C M Aalfs

series ordinal

4

1 reference

stated in

Europe PubMed Central

PubMed publication ID

10583221

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10583221%20AND%20SRC:MED&resulttype=core&format=json

retrieved

2 November 2019

C McMahon

series ordinal

5

1 reference

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Europe PubMed Central

PubMed publication ID

10583221

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10583221%20AND%20SRC:MED&resulttype=core&format=json

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2 November 2019

A Jones

series ordinal

7

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stated in

Europe PubMed Central

PubMed publication ID

10583221

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10583221%20AND%20SRC:MED&resulttype=core&format=json

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2 November 2019

R C Hennekam

series ordinal

8

1 reference

stated in

Europe PubMed Central

PubMed publication ID

10583221

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10583221%20AND%20SRC:MED&resulttype=core&format=json

retrieved

2 November 2019

A Poustka

series ordinal

9

1 reference

stated in

Europe PubMed Central

PubMed publication ID

10583221

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10583221%20AND%20SRC:MED&resulttype=core&format=json

retrieved

2 November 2019

P J Mason

series ordinal

10

1 reference

stated in

Europe PubMed Central

PubMed publication ID

10583221

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10583221%20AND%20SRC:MED&resulttype=core&format=json

retrieved

2 November 2019

I Dokal

series ordinal

11

1 reference

stated in

Europe PubMed Central

PubMed publication ID

10583221

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10583221%20AND%20SRC:MED&resulttype=core&format=json

retrieved

2 November 2019

language of work or name

English

0 references

publication date

1 November 1999

1 reference

stated in

Europe PubMed Central

PubMed publication ID

10583221

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10583221%20AND%20SRC:MED&resulttype=core&format=json

retrieved

2 November 2019

published in

British Journal of Haematology

1 reference

stated in

Europe PubMed Central

PubMed publication ID

10583221

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10583221%20AND%20SRC:MED&resulttype=core&format=json

retrieved

2 November 2019

volume

107

1 reference

stated in

Europe PubMed Central

PubMed publication ID

10583221

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10583221%20AND%20SRC:MED&resulttype=core&format=json

retrieved

2 November 2019

issue

2

1 reference

stated in

Europe PubMed Central

PubMed publication ID

10583221

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10583221%20AND%20SRC:MED&resulttype=core&format=json

retrieved

2 November 2019

page(s)

335-339

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Europe PubMed Central

PubMed publication ID

10583221

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10583221%20AND%20SRC:MED&resulttype=core&format=json

retrieved

2 November 2019

cites work

The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1046/J.1365-2141.1999.01690.X

retrieved

21 April 2017

X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1046/J.1365-2141.1999.01690.X

retrieved

21 April 2017

A syndrome of primary combined immunodeficiency with microcephaly, cerebellar hypoplasia, growth failure and progressive pancytopenia

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1046%2FJ.1365-2141.1999.01690.X

retrieved

21 January 2018

Dyskeratosis congenita: an inherited bone marrow failure syndrome

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1046%2FJ.1365-2141.1999.01690.X

retrieved

21 January 2018

Dyskeratosis Congenita (DC) Registry: identification of new features of DC.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1046%2FJ.1365-2141.1999.01690.X

retrieved

21 January 2018

Identifiers

DOI

10.1046/J.1365-2141.1999.01690.X

1 reference

stated in

Europe PubMed Central

PubMed publication ID

10583221

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10583221%20AND%20SRC:MED&resulttype=core&format=json

retrieved

2 November 2019

PubMed publication ID

10583221

1 reference

stated in

Europe PubMed Central

PubMed publication ID

10583221

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10583221%20AND%20SRC:MED&resulttype=core&format=json

retrieved

2 November 2019

ResearchGate publication ID

12718520

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