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Dysmorphic features

National Institutes of Health

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CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIkCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IImCongenital disorder of glycosylation type 1J

Papers overview

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Review
2016
Review
2016
Interstitial deletion of 7q22.1q31.1 in a boy with structural brain abnormality, cardiac defect, developmental delay, and dysmorphic features
This report describes a male child with a history of poor feeding and swallowing problems, hypotonia, mild bilateral… 
2015
2015
Hypoparathyroidism, Dwarfism, Medullary Stenosis of Long Bones, and Eye Abnormalities (Kenny-Caffey Syndrome) and Hypoparathyroidism, Retardation, and Dysmorphism (Sanjad-Sakati) Syndrome
The syndrome of hypoparathyroidism, retardation (of growth and mental development) with dysmorphic features, HRD syndrome, also… 
2014
2014
De novo 393 kb microdeletion of 7p11.2 characterized by aCGH in a boy with psychomotor retardation and dysmorphic features
2011
2011
Bloom syndrome complicated by colonic cancer in a young Tunisian woman.
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