160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker–Warburg syndrome

Published 2013 View Full Article

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Title
160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker–Warburg syndrome
Authors
Keywords
-
Journal
European Journal of Medical Genetics
Volume 56, Issue 12, Pages 689-694
Publisher
Elsevier BV
Online
2013-10-11
DOI
10.1016/j.ejmg.2013.09.014

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