Detection of a large TBX5 deletion in a family with Holt-Oram syndrome.
Akrami
S M
SM
Winter
R M
RM
Brook
J D
JD
Armour
J A
JA
D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D005820:Genetic Testing; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics*; D008297:Male; D010375:Pedigree; D017384:Sequence Deletion / Q000235:genetics*; D013577:Syndrome; D020825:T-Box Domain Proteins / Q000235:genetics*
D020825:T-Box Domain Proteins; C103172:T-box transcription factor 5