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A genetic assay of three patients in the same family with Holt-Oram syndrome; a case report
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نویسنده
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Ebrahimzadeh-Vesal Reza ,Hosseini Seyed kianush ,Rezakhanlu Fereshteh ,Derakhshandeh-Peykar Pupak
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منبع
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reports of biochemistry and molecular biology - 2013 - دوره : 2 - شماره : 1 - صفحه:1 -4
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چکیده
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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.
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کلیدواژه
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Holt-Oram syndrome ,Congenital heart malformation ,TBX5 gene
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آدرس
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tehran university of medical sciences tums, ایران, tehran university of medical sciences tums, ایران, tehran university of medical sciences tums, ایران, tehran university of medical sciences tums, ایران
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پست الکترونیکی
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derakhshandeh@mgz-muenchen.de
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Authors
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