Craniofacial syndromes: no such thing as a single gene disease (Q72161173)

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24 October 2019

title

Craniofacial syndromes: no such thing as a single gene disease (English)

1 reference

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24 October 2019

author name string

Mulvihill JJ

series ordinal

1

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24 October 2019

publication date

1 February 1995

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24 October 2019

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24 October 2019

volume

9

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24 October 2019

issue

2

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24 October 2019

page(s)

101-103

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Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome

24 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNG0295-101

7 January 2021

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes

1 reference

https://api.crossref.org/works/10.1038%2FNG0295-101

7 January 2021

FGFR2 mutations in Pfeiffer syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0295-101

7 January 2021

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

1 reference

https://api.crossref.org/works/10.1038%2FNG0295-101

7 January 2021

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

1 reference

https://api.crossref.org/works/10.1038%2FNG0295-101

7 January 2021

Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0295-101

7 January 2021

Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2

1 reference

https://api.crossref.org/works/10.1038%2FNG0295-101

7 January 2021

Craniosynostosis, midfacial hypoplasia, and foot abnormalities: An autosomal dominant phenotype in a large Amish kindred

1 reference

https://api.crossref.org/works/10.1038%2FNG0295-101

7 January 2021

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0295-101

7 January 2021

Dysmorphology (teratology)

1 reference

https://api.crossref.org/works/10.1038%2FNG0295-101

7 January 2021

Skeletal abnormalities in the Apert syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0295-101

7 January 2021

Sickle cell anemia. Beta s gene cluster haplotypes as genetic markers for severe disease expression

1 reference

https://api.crossref.org/works/10.1038%2FNG0295-101

7 January 2021

A genome-wide search for human type 1 diabetes susceptibility genes

1 reference

https://api.crossref.org/works/10.1038%2FNG0295-101

7 January 2021

From mutation mapping to phenotype cloning

1 reference

https://api.crossref.org/works/10.1038%2FNG0295-101

7 January 2021

Identifiers

DOI

10.1038/NG0295-101

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7719329%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference