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Cause of recurrent infections in MECP2 duplication syndrome identified

✍ Scribed by Mohindru, Pooja; Khanna, Rajesh; Bhatia, S. S.

Book ID
118306899
Publisher
Springer-Verlag
Year
2012
Weight
76 KB
Volume
1
Category
Article
ISSN
2193-0961

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## Abstract In XY males, duplication of any part of the X chromosome except the pseudoautosomal region leads to functional disomy of the corresponding genes. We describe three unrelated male patients with mental retardation (MR), absent or delayed speech, and recurrent infections. Using high‐resolu