Frontometaphyseal dysplasia and keloid formation without FLNA mutations. (Q52949572)

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6 March 2020

title

Frontometaphyseal dysplasia and keloid formation without FLNA mutations (English)

1 reference

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frontometaphyseal dysplasia

6 March 2020

main subject

1 reference

4

1 reference

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6 March 2020

Stephen Robertson

10

1 reference

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6 March 2020

author name string

Hanneke Basart

1

1 reference

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6 March 2020

Annekatrien van de Kar

2

1 reference

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6 March 2020

Lesley Adès

3

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6 March 2020

Erin Carter

5

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6 March 2020

Saskia M Maas

6

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6 March 2020

Louise C Wilson

7

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6 March 2020

Chantal M A M van der Horst

8

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6 March 2020

Emma M Wade

9

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6 March 2020

Raoul C Hennekam

11

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6 March 2020

language of work or name

English

0 references

publication date

21 April 2015

1 reference

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American Journal of Medical Genetics

6 March 2020

published in

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6 March 2020

volume

167

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6 March 2020

issue

6

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6 March 2020

page(s)

1215-1222

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Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings.

6 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37044

Filamin A: phenotypic diversity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37044

Frontometaphyseal dysplasia: Mutations inFLNA and phenotypic diversity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37044

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37044

Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37044

Keloids in Rubinstein-Taybi syndrome: a clinical study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37044

Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37044

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.37044

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25899317%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

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