A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24-Reference-Cited by-同舟云学术

A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24

Published:2018-10-17 Issue:11 Volume:176 Page:2479-2486
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Rodríguez-García María Elena¹,Cotrina-Vinagre Francisco Javier¹,Cruz-Rojo Jaime²,Garzón-Lorenzo Lucía²,Carnicero-Rodríguez Patricia¹,Pozo Jaime Sánchez-Del²,Martínez-Azorín Francisco¹³^ORCID

Affiliation:

1. Laboratorio de Enfermedades Mitocondriales; Instituto de Investigación Hospital 12 de Octubre (i+12); Madrid Spain

2. Unidad de Dismorfología, Departamento de Pediatría; Hospital 12 de Octubre; Madrid Spain

3. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER); Madrid Spain

Funder

Spanish Instituto de Salud Carlos III

European Regional Development Fund

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.40496/fullpdf

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