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Assessing congenital anomalies after preimplantation genetic diagnosis

✍ Scribed by Joe Leigh Simpson; Inge Liebaers

Book ID
105451327
Publisher
Springer US
Year
1996
Tongue
English
Weight
677 KB
Volume
13
Category
Article
ISSN
1573-7330

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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