R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations

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Bibliographic Details
Published in:American Journal of Medical Genetics Part A 2012, Vol.158A (3), p.664-668
Main Authors: Richer, J., Milewicz, D.M., Gow, R., de Nanassy, J., Maharajh, G., Miller, E., Oppenheimer, L., Weiler, G., O'Connor, M.
Format: Report
Language:English
Subjects:
ACTA2
aneurysm
deep skin creases
megacystis
mydriasis
patent ductus arteriosus
prune-belly
skin dimple
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ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.35206