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Congenital cardiovascular malformations: an intersection of human genetics and developmental biology

✍ Scribed by Clark, Edward B; Gibson, Wilma T

Book ID
122030092
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
72 KB
Volume
9
Category
Article
ISSN
1058-9813

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## Abstract Holt–Oram syndrome (HOS) is a multiple malformation syndrome associated with congenital heart malformation (CHM) and caused by mutations in the TBX5 transcription factor. Effective prenatal genetic diagnosis of HOS is limited by factors that modify clinical manifestations and confound p