Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novelMITFgene mutations-Reference-Cited by-同舟云学术

Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novelMITFgene mutations

Published:2016-09-08 Issue:12 Volume:170 Page:3294-3297
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Cortés-González Vianney¹,Zenteno Juan Carlos²³,Guzmán-Sánchez Martín⁴,Giordano-Herrera Verónica⁵,Guadarrama-Vallejo Dalia³,Ruíz-Quintero Narlly⁶,Villanueva-Mendoza Cristina¹

Affiliation:

1. Department of Genetics; Hospital “Dr. Luis Sánchez Bulnes”; Asociación para Evitar la Ceguera en México; Mexico City Mexico

2. Department of Biochemistry; National Autonomous University of Mexico; Mexico City Mexico

3. Research Unit and Genetics Department; Institute of Ophthalmology “Conde de Valenciana”; Mexico City Mexico

4. Ophthalmology; Hospital “Dr. Luis Sánchez Bulnes”, Asociación para Evitar la Ceguera en México; Mexico City Mexico

5. Department of Retina; Hospital “Dr. Luis Sánchez Bulnes”, Asociación para Evitar la Ceguera en México; Mexico City Mexico

6. Department of Cornea; Hospital “Dr. Luis Sánchez Bulnes”, Asociación para Evitar la Ceguera en México; Mexico City Mexico

Funder

Asociación para Evitar la Ceguera en México, Hospital “Dr. Luis Sánchez Bulnes”

Consejo Nacional de Ciencia y Tecnología

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference19 articles.

1. Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome);Amiel;Clin Dysmorphol,1998

2. Nanophthalmos

3. Refractive development of the human eye;Gordon;Arch Ophthalmol,1985

4. Tietz syndrome: Unique phenotype specific to mutations of MITF nuclear localization signal;Izumi;Clin Genet,2008

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