Melorheostosis in a family with autosomal dominant osteopoikilosis: Report of a third family (Q73398816)

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scientific article published on 01 June 2003

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English	Melorheostosis in a family with autosomal dominant osteopoikilosis: Report of a third family	scientific article published on 01 June 2003

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scholarly article

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Europe PubMed Central

PubMed publication ID

12749062

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12749062%20AND%20SRC:MED&resulttype=core&format=json

retrieved

3 November 2019

title

Melorheostosis in a family with autosomal dominant osteopoikilosis: report of a third family (English)

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stated in

Europe PubMed Central

PubMed publication ID

12749062

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12749062%20AND%20SRC:MED&resulttype=core&format=json

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3 November 2019

Melorheostosis in a family with autosomal dominant osteopoikilosis: Report of a third family (English)

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Crossref

DOI

10.1002/AJMG.A.20072

reference URL

https://api.crossref.org/works/10.1002/AJMG.A.20072

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2 January 2024

main subject

dominant gene

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stated in

Europe PubMed Central

PubMed publication ID

12749062

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12749062

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2 January 2024

genetics

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Crossref

DOI

10.1002/AJMG.A.20072

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https://api.crossref.org/works/10.1002/AJMG.A.20072

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2 January 2024

author name string

Philippe Debeer

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1

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Europe PubMed Central

PubMed publication ID

12749062

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12749062%20AND%20SRC:MED&resulttype=core&format=json

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3 November 2019

J-P Fryns

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5

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Europe PubMed Central

PubMed publication ID

12749062

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12749062%20AND%20SRC:MED&resulttype=core&format=json

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3 November 2019

E. Pykels

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2

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Europe PubMed Central

PubMed publication ID

12749062

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12749062

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2 January 2024

J. Lammens

series ordinal

3

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Europe PubMed Central

PubMed publication ID

12749062

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12749062

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2 January 2024

K. Devriendt

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4

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Europe PubMed Central

PubMed publication ID

12749062

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12749062

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2 January 2024

language of work or name

English

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National Center for Biotechnology Information

PubMed publication ID

12749062

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12749062

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2 January 2024

publication date

1 June 2003

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Europe PubMed Central

PubMed publication ID

12749062

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12749062%20AND%20SRC:MED&resulttype=core&format=json

retrieved

3 November 2019

full work available at URL

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.20072

1 reference

stated in

Crossref

DOI

10.1002/AJMG.A.20072

reference URL

https://api.crossref.org/works/10.1002/AJMG.A.20072

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2 January 2024

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.20072

1 reference

stated in

Crossref

DOI

10.1002/AJMG.A.20072

reference URL

https://api.crossref.org/works/10.1002/AJMG.A.20072

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2 January 2024

published in

American Journal of Medical Genetics

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stated in

Europe PubMed Central

PubMed publication ID

12749062

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12749062%20AND%20SRC:MED&resulttype=core&format=json

retrieved

3 November 2019

volume

119A

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Europe PubMed Central

PubMed publication ID

12749062

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12749062%20AND%20SRC:MED&resulttype=core&format=json

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3 November 2019

issue

2

1 reference

stated in

Europe PubMed Central

PubMed publication ID

12749062

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12749062%20AND%20SRC:MED&resulttype=core&format=json

retrieved

3 November 2019

page(s)

188-193

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Europe PubMed Central

PubMed publication ID

12749062

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12749062%20AND%20SRC:MED&resulttype=core&format=json

retrieved

3 November 2019

cites work

Osteopoikilosis--a clinical and genetic study.

series ordinal

2

1 reference

stated in

Crossref

DOI

10.1002/AJMG.A.20072

reference URL

https://api.crossref.org/works/10.1002/AJMG.A.20072

retrieved

2 January 2024

Melorheostosis in a patient with familial osteopoikilosis

series ordinal

5

1 reference

stated in

Crossref

DOI

10.1002/AJMG.A.20072

reference URL

https://api.crossref.org/works/10.1002/AJMG.A.20072

retrieved

2 January 2024

Mixed sclerosing bone dystrophy with features resembling osteopoikilosis and osteopathia striata

series ordinal

7

1 reference

stated in

Crossref

DOI

10.1002/AJMG.A.20072

reference URL

https://api.crossref.org/works/10.1002/AJMG.A.20072

retrieved

2 January 2024

Melorheostosis and somatic mosaicism

series ordinal

8

1 reference

stated in

Crossref

DOI

10.1002/AJMG.A.20072

reference URL

https://api.crossref.org/works/10.1002/AJMG.A.20072

retrieved

2 January 2024

Melorheostosis in a family with autosomal dominant osteopoikilosis

series ordinal

10

1 reference

stated in

Crossref

DOI

10.1002/AJMG.A.20072

reference URL

https://api.crossref.org/works/10.1002/AJMG.A.20072

retrieved

2 January 2024

Mixed sclerosing bone dystrophy presenting with upper extremity deformities. A case report and review of the literature

series ordinal

11

1 reference

stated in

Crossref

DOI

10.1002/AJMG.A.20072

reference URL

https://api.crossref.org/works/10.1002/AJMG.A.20072

retrieved

2 January 2024

Melorheostosis with associated minimal change nephrotic syndrome, mesenteric fibromatosis and capillary haemangiomas

series ordinal

13

1 reference

stated in

Crossref

DOI

10.1002/AJMG.A.20072

reference URL

https://api.crossref.org/works/10.1002/AJMG.A.20072

retrieved

2 January 2024

Osteopoikilosis: report of a familial case

series ordinal

14

1 reference

stated in

Crossref

DOI

10.1002/AJMG.A.20072

reference URL

https://api.crossref.org/works/10.1002/AJMG.A.20072

retrieved

2 January 2024

Buschke--Ollendorff syndrome (disseminated dermatofibrosis with osteopoikilosis)

series ordinal

15

1 reference

stated in

Crossref

DOI

10.1002/AJMG.A.20072

reference URL

https://api.crossref.org/works/10.1002/AJMG.A.20072

retrieved

2 January 2024

Clinical considerations in Buschke-Ollendorff syndrome

series ordinal

16

1 reference

stated in

Crossref

DOI

10.1002/AJMG.A.20072

reference URL

https://api.crossref.org/works/10.1002/AJMG.A.20072

retrieved

2 January 2024

Identifiers

DOI

10.1002/AJMG.A.20072

1 reference

stated in

Europe PubMed Central

PubMed publication ID

12749062

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12749062%20AND%20SRC:MED&resulttype=core&format=json

retrieved

3 November 2019

PubMed publication ID

12749062

1 reference

stated in

Europe PubMed Central

PubMed publication ID

12749062

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12749062%20AND%20SRC:MED&resulttype=core&format=json

retrieved

3 November 2019

 

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