The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: Quadricuspid aortic valve and other midline defects

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Bibliographic Details
Published in:American Journal of Medical Genetics Part A 2009, Vol.149A (12), p.2803-2808
Main Authors: Chen, Wuyan, Kim, Mimi S., Shanbhag, Sujata, Arai, Andrew, VanRyzin, Carol, McDonnell, Nazli B., Merke, Deborah P.
Format: Report
Language:English
Subjects:
aortic valve
CAH
congenital adrenal hyperplasia
contiguous deletion syndrome
CYP21A2
EDS
Ehlers-Danlos syndrome
hypermobility
tenascin-X
TNX
TNXB
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ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.33092