A copy of this work was available on the public web and has been preserved in the Wayback Machine. The capture dates from 2016; you can also visit the original URL.
The file type is application/pdf.
A genetic Assay of Three Patients in the Same Family with Holt-Oram Syndrome; a Case Report
2013
Reports of Biochemistry & Molecular Biology
unpublished
Preserved Fulltext
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.
fatcat:dpe4sr2zffcrdg3be4k5nqxdhm