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A de novo cryptic 5p deletion and 9p duplication detected by subtelomeric MLPA in a boy with cri du chat syndrome
Author(s) -
LincolndeCarvalho Carolina R.,
Vicente Fabíola M.P.,
Vieira Társis A.P.,
de Mello Maricilda P.,
MarquesdeFaria Antonia P.
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33458
Subject(s) - multiplex ligation dependent probe amplification , gene duplication , subtelomere , genetics , biology , medicine , chromosome , gene , exon
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