(Q55057023)

English

Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue.

scientific article

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/23401428

Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue. (English)

1 reference

Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/23401428

atelosteogenesis

1 reference

based on heuristic

inferred from title

atelosteogenesis type I

1 reference

based on heuristic

inferred from title

author name string

Ben C Li

1

1 reference

Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/23401428

Jacob Hogue

2

1 reference

Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/23401428

Meg Eilers

3

1 reference

Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/23401428

Pavni Mehrotra

4

1 reference

Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/23401428

James Hyland

5

1 reference

Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/23401428

Tara Holm

6

1 reference

Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/23401428

Tracy Prosen

7

1 reference

Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/23401428

Anne M Slavotinek

8

1 reference

Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/23401428

language of work or name

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publication date

11 February 2013

1 reference

Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/23401428

American Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/23401428

161A

1 reference

Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/23401428

3

1 reference

Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/23401428

619-625

1 reference

Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/23401428

Mutations in two regions of FLNB result in atelosteogenesis I and III.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35792

21 January 2018

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35792

21 January 2018

Prenatal sonographic features of fetal atelosteogenesis type 1.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35792

21 January 2018

Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35792

21 January 2018

A case of atelosteogenesis

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35792

21 January 2018

Prenatal diagnosis of atelosteogenesis type I at 21 weeks' gestation.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35792

21 January 2018

Identifiers

10.1002/AJMG.A.35792

1 reference

Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/23401428

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/23401428

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