Complexity of Phenotype–Genotype Correlations in Spanish Patients withRDH12Mutations-Reference-Cited by-同舟云学术

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Complexity of Phenotype–Genotype Correlations in Spanish Patients withRDH12Mutations

Published:2009-03-01 Issue:3 Volume:50 Page:1065
ISSN:1552-5783
Container-title:Investigative Opthalmology & Visual Science
language:en
Short-container-title:Invest. Ophthalmol. Vis. Sci.

Author:

Valverde Diana¹,Pereiro Ines¹,Vallespi´n Elena²,Ayuso Carmen²,Borrego Salud³,Baiget Montserrat⁴

Affiliation:

1. From the Departamento de Bioqui´mica, Gene´tica e Inmunologi´a, Universidad de Vigo, Vigo, Spain;

2. Unidad de Gene´tica, Fundacio´n Jime´nez-Di´az, Madrid, Spain;

3. Unidad de Gene´tica, Hospital Virgen del Roci´o, Sevilla, Spain; and

4. Unidad de Gene´tica, Hospital de Sant Pau, Barcelona, Spain.

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

Cited by 25 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences;International Journal of Molecular Sciences;2024-06-03

2. RDH12-associated retinal degeneration caused by a homozygous pathogenic variant of 146C>T and literature review;International Journal of Ophthalmology;2024-02-18

3. Clinical and whole exome sequencing findings in children from Yunnan Yi minority ethnic group with retinitis pigmentosa: two case reports;Journal of Medical Case Reports;2023-06-02

4. Generation of a human induced pluripotent stem cell line (PUMCHi018-A) from an early-onset severe retinal dystrophy patient with RDH12 mutations;Stem Cell Research;2022-03

5. Isolated Maculopathy and Moderate Rod-Cone Dystrophy Represent the Milder End of the RDH12-related Retinal Dystrophy Spectrum;Retina;2020-11-25

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