“Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports”

“Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports”

Abstract Background Jervell and Lange-Nielsen syndrome (JLNS) isa recessive model of long QT syndrome which might also be related to possible hearing loss. Although the syndrome has been demonstrated to be originated from homozygous or compound heterozygous mutations in either the KCNQ1 or KCNE1 gen...

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Bibliographic Details
Main Authors: Fahrettin Uysal, Burcu Turkgenc, Guven Toksoy, Ozlem M. Bostan, Elif Evke, Oya Uyguner, Cengiz Yakicier, Hulya Kayserili, Ergun Cil, Sehime G. Temel
Format: Article
Language:English
Published: BMC 2017-10-01
Series:BMC Medical Genetics
Subjects:
Jervell-Lange-Nielsen syndrome
Deafness
Homozygous or compound heterozygous mutations
Case report
Online Access:http://link.springer.com/article/10.1186/s12881-017-0474-8

Internet

http://link.springer.com/article/10.1186/s12881-017-0474-8

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