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Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes
Author(s) -
Fernández Luis,
Nevado Julián,
De Torres María L.,
Mansilla Elena,
Vallespín Elena,
GarcíaMiñaúr Sixto,
Palomo Rebeca,
Deirós Lucía,
Cabrera Marta,
Galo Elia Dina,
Lapunzina Pablo,
Delicado Alicia
Publication year - 2012
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.35595
Subject(s) - deletion syndrome , gene duplication , genetics , digeorge syndrome , biology , phenotype , gene
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