Title of article
A genetic assay of three patients in the same family with Holt-Oram syndrome; a case report
Author/Authors
Ebrahimzadeh-Vesal، Reza Ebrahimzadeh-VesalReza نويسنده Department of Medical Genetics, Medical Sciences/University of Tehran, Iran, PO Box 14155-1595 , , Hosseini، Seyed kianush نويسنده Tehran Heart Center, Medical Sciences, University of Tehran, Iran , , Rezakhanlu، Fereshteh نويسنده Tehran Heart Center, Medical Sciences, University of Tehran, Iran , , Derakhshandeh-Peykar، Pupak نويسنده Bahrami hospital, Medical Sciences/University of Tehran, Iran, PO Box 14155-1595. ,
Issue Information
دوفصلنامه با شماره پیاپی 0 سال 2013
Pages
4
From page
1
To page
4
Abstract
Holt-Oram syndrome (HOS) is a developmental disorder inherited in an autosomal-dominant pattern. Affected organs are the heart and forelimbs with upper extremity skeletal defects and congenital heart malformation. In this study we present three cases of HOS in the same family. In one of these three individuals we detected a transition of C to T (CTG-GTT, V205V) in exon 7 of the TBX5 gene. This nucleotide change causes no amino acid change and potential pathologic effects remain unknown.
Journal title
Reports of Biochemistry and Molecular Biology (RBMB)
Serial Year
2013
Journal title
Reports of Biochemistry and Molecular Biology (RBMB)
Record number
1026266
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