Literature DB >> 30578525

Genetic Testing for Inherited Retinal Dystrophy: Basic Understanding.

Stephen H Tsang1,2, Tarun Sharma3.   

Abstract

Genetic testing is a medical test that studies human DNA to discover genetic changes or mutations that could lead to genetic disease. Genetic testing is performed on samples of DNA that can be obtained from blood, hair, skin, saliva, amniotic fluid, or other tissues. The test results are then sent in writing to the doctor or the genetic counsellor for discussion with the patient and the family.

Entities:  

Keywords:  Genetic testing; Inherited retinal dystrophy

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Year:  2018        PMID: 30578525     DOI: 10.1007/978-3-319-95046-4_52

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN: 0065-2598            Impact factor:   2.622


  2 in total

Review 1.  Genetic testing and diagnosis of inherited retinal diseases.

Authors:  Byron L Lam; Bart P Leroy; Graeme Black; Tuyen Ong; Dan Yoon; Karmen Trzupek
Journal:  Orphanet J Rare Dis       Date:  2021-12-14       Impact factor: 4.123

Review 2.  Approach to inherited retinal diseases.

Authors:  Dhanashree Ratra; Sengul Ozdek; Munispriyan Raviselvan; Sailaja Elchuri; Tarun Sharma
Journal:  Indian J Ophthalmol       Date:  2022-07       Impact factor: 2.969

  2 in total

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