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Williams–Beuren Syndrome: Unraveling the Mysteries of a Microdeletion Disorder

✍ Scribed by Lucy R. Osborne

Book ID
115639529
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
238 KB
Volume
67
Category
Article
ISSN
1096-7192

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## Abstract The molecular characterization of balanced chromosomal rearrangements have always been of advantage in identifying disease‐causing genes. Here, we describe the breakpoint mapping of a de novo balanced translocation t(7;12)(q11.22;q14.2) in a patient presenting with a failure to thrive a