Genetic studies in a patient with X-linked retinoschisis coexisting with developmental delay and sensorineural hearing loss-Reference-Cited by-同舟云学术

Genetic studies in a patient with X-linked retinoschisis coexisting with developmental delay and sensorineural hearing loss

Published:2016-09-22 Issue:3 Volume:38 Page:260-266
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Sudha Dhandayuthapani¹²,Patric Irene Rosita Pia³,Ganapathy Aparna³,Agarwal Smitha³,Krishna Shuba³,Neriyanuri Srividya⁴⁵,Sripriya Sarangapani¹,Sen Parveen⁶,Chidambaram Subbulakshmi⁷,Arunachalam Jayamuruga Pandian¹

Affiliation:

1. SN ONGC Department of Genetics and Molecular Biology, Vision Research Foundation, Chennai, India

2. School of Biotechnology, SASTRA University, Thanjavur, India

3. Strand Life Sciences, Bengaluru, India

4. Elite School of Optometry, Medical Research Foundation, Chennai, India

5. Birla Institute of Technology and Science, Pilani, India

6. Department of Vitreo-Retinal Services, Medical Research Foundation, Chennai, India

7. R.S. Mehta Jain Department of Biochemistry and Cell Biology, Vision Research Foundation, Chennai, India

Funder

Department of Biotechnology, India

Publisher

Informa UK Limited

Subject

Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2016.1214972

Reference34 articles.

1. X linked retinoschisis.

2. Novel Mutation in BEST1 Associated With Retinoschisis

3. Coats’ Disease and Congenital Retinoschisis in a Single Eye: A Case Report and DNA Analysis

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2. Whole‑exome sequencing identifies an RS1 variant in a Chinese family with X‑linked retinoschisis;Experimental and Therapeutic Medicine;2021-10-05

3. X-Linked Sensorineural Hearing Loss: A Literature Review;Current Genomics;2018-06-01

4. Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?;PLOS ONE;2018-05-31

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