Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients-Reference-Cited by-同舟云学术

Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients

Published:2020-08-31 Issue:3 Volume:184 Page:728-752
ISSN:1552-4868
Container-title:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
language:en
Short-container-title:Am J Med Genet

Author:

Sallum Juliana Maria Ferraz¹²^ORCID,Motta Fabiana Louise¹²^ORCID,Arno Gavin³⁴^ORCID,Porto Fernanda Belga Ottoni⁵⁶^ORCID,Resende Rosane Guazi⁷,Belfort Rubens¹^ORCID

Affiliation:

1. Department of Ophthalmology Universidade Federal de São Paulo Sao Paulo Brazil

2. Instituto de Genética Ocular Sao Paulo Brazil

3. UCL Institute of Ophthalmology London UK

4. Moorfields Eye Hospital London UK

5. INRET Clínica e Centro de Pesquisa Belo Horizonte Minas Gerais Brazil

6. Centro Oftalmológico de Minas Gerais Belo Horizonte Minas Gerais Brazil

7. Instituto de Olhos Carioca Rio de Janeiro Brazil

Funder

University of Kentucky

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.31828

Reference120 articles.

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4. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

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