A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome-Reference-Cited by-同舟云学术

A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome

Published:2017-08-16 Issue:10 Volume:173 Page:2838-2843
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Machado Renato A.¹^ORCID,Ferreira Shirlene B.²,Martins Luciane³^ORCID,Ribeiro Mariana M.⁴,Martelli Daniella R. B.⁵,Coletta Ricardo D.¹,Aguiar Marcos J. B.⁶,Martelli‐Júnior Hercílio⁵⁷

Affiliation:

1. Department of Oral Diagnosis, Piracicaba Dental SchoolState University of CampinasPiracicabaSão PauloBrazil

2. Health Science ProgramState University of Montes ClarosUnimontesMinas Gerais StateBrazil

3. Division of Periodontics, Department of Prosthodontics and Periodontics, Piracicaba Dental SchoolState University of CampinasPiracicabaSão PauloBrazil

4. Department of Morphology, Piracicaba Dental SchoolState University of CampinasPiracicabaSão PauloBrazil

5. Stomatology Clinic, Dental SchoolState University of Montes ClarosMontes ClarosMinas GeraisBrazil

6. Special Genetics ServiceHospital of the Federal University of Minas GeraisBelo HorizonteMinas GeraisBrazil

7. Center for Rehabilitation of Craniofacial Anomalies, Dental SchoolUniversity of José Rosário VellanoBelo HorizonteMinas GeraisBrazil

Funder

Fundação de Amparo à Pesquisa do Estado de Minas Gerais

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38389

Reference35 articles.

1. Trp290Cys mutation of the FGFR2 gene in a patient with severe Pfeiffer syndrome type 2

2. A case report of a patient with Pfeiffer syndrome, an FGRF 2 mutation (Trp290Cys) and unique ocular anterior segment findings

3. Variable expressivity of pfeiffer syndrome in a family withFGFR1p.Pro252Arg mutation

4. Protein structure homology modeling using SWISS-MODEL workspace

5. Fibroblast growth factor receptors: lessons from the genes

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