Clinical features and possible founder mutation of the 8bp duplication mutation in the SLC4A11 gene causing corneal dystrophy and perceptive deafness in three South American families-Reference-Cited by-同舟云学术

Clinical features and possible founder mutation of the 8bp duplication mutation in the SLC4A11 gene causing corneal dystrophy and perceptive deafness in three South American families

Published:2019-03-04 Issue:2 Volume:40 Page:91-98
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Romero Pablo T.¹,Donoso Rodrigo²,López Pamela³,Miranda Ana³,Rodríguez Leandro⁴,Chrzanowsky Dominique³,Asenjo Maria S.³,Burgos Gonzalo³,Villegas Pablo⁵,Desir Julie⁶,Moya Graciela⁷,Herrera Luisa M.³

Affiliation:

1. Hospital Clínico Universidad de Chile José Joaquín Aguirre, Santiago, Chile

2. Servicio de Oftalmología, Hospital del Salvador, Santiago, Chile

3. Programa de Genética Humana, ICBM, Facultad de Medicina, Universidad de Chile, Santiago, Chile

4. Servicio de Otorrinolaringología, Hospital del Salvador, Santiago, Chile

5. Servicio de Anatomía Patológica, Hospital del Salvador, Santiago, Chile

6. Department of Medical Genetics, Hôpital Erasme, ULB, Brussels, Belgium

7. Laboratorio GENOS, Buenos Aires, Argentina

Funder

OAIC University of Chile

Publisher

Informa UK Limited