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- W2470687200 abstract "5q11.2 Deletion is a very rare genomic disorder, and its clinical phenotype has not yet been characterized. This report describes a patient with an 8.6 Mb deletion, showing hypotonia, mild developmental delay, short stature, and distinctive dysmorphic features (frontal bossing, square face, deep-set eyes, prominent columella, long philtrum, thin lips). © 2016 Wiley Periodicals, Inc." @default.
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- W2470687200 date "2016-07-04" @default.
- W2470687200 modified "2023-09-26" @default.
- W2470687200 title "A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features" @default.
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- W2470687200 doi "https://doi.org/10.1002/ajmg.a.37824" @default.
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