(Q53106453)

English

Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review.

scientific article published on 5 May 2016

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scholarly article

1 reference

Europe PubMed Central

11 May 2018

http://europepmc.org/abstract/MED/27149304

1 reference

Europe PubMed Central

Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review. (English)

1 reference

Europe PubMed Central

11 May 2018

http://europepmc.org/abstract/MED/27149304

Ehlers-Danlos syndrome

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1 reference

based on heuristic

inferred from title

Claudia Ciaccio

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27149304%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

5

1 reference

Europe PubMed Central

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5 June 2020

author name string

Chiara Dordoni

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27149304%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Marina Venturini

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27149304%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Piergiacomo Calzavara-Pinton

4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27149304%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Marina Colombi

6

1 reference

Europe PubMed Central

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5 June 2020

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publication date

5 May 2016

1 reference

Europe PubMed Central

11 May 2018

http://europepmc.org/abstract/MED/27149304

American Journal of Medical Genetics

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27149304%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

170

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5 June 2020

8

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5 June 2020

2031-2038

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Europe PubMed Central

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5 June 2020

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37728

21 January 2018

Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37728

21 January 2018

Peptidylprolyl cis/trans isomerases (immunophilins): biological diversity--targets--functions

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37728

21 January 2018

Identifiers

10.1002/AJMG.A.37728

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27149304%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27149304%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

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