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Cryptic 7q36.2q36.3 deletion causes multiple congenital eye anomalies and craniofacial dysmorphism
Author(s) -
BelezaMeireles Ana,
Matoso Eunice,
Ramos Lina,
Melo Joana B.,
Carreira Isabel M.,
Silva Eduardo D.,
Saraiva Jorge M.
Publication year - 2013
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.35713
Subject(s) - craniofacial , facial dysmorphism , intellectual disability , short stature , medicine , genetics , pediatrics , phenotype , biology , gene , psychiatry
A patient with a de novo cryptic 7q36.2q36.3 deletion presented with multiple congenital eye abnormalities, short stature and craniofacial dysmorphism, in the absence of intellectual disability. This report further delineates the 7q36 microdeletion syndrome. © 2013 Wiley Periodicals, Inc.