Developmental Coordination Disorder in a Patient with Mental Disability and a Mild Phenotype Carrying Terminal 6q26-qter Deletion

Developmental Coordination Disorder in a Patient with Mental Disability and a Mild Phenotype Carrying Terminal 6q26-qter Deletion

Terminal deletion of chromosome 6q is a rare chromosomal abnormality associated with variable phenotype spectrum. Although intellectual disability, facial dysmorphism, seizures and brain abnormalities are typical features of this syndrome, genotype–phenotype correlation needs to be better understood...

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Bibliographic Details
Main Authors: Marianna De Cinque, Orazio Palumbo, Ermelinda Mazzucco, Antonella Simone, Pietro Palumbo, Renata Ciavatta, Giuliana Maria, Rosangela Ferese, Stefano Gambardella, Antonella Angiolillo, Massimo Carella, Silvio Garofalo
Format: Article
Language:English
Published: Frontiers Media S.A. 2017-12-01
Series:Frontiers in Genetics
Subjects:
terminal 6q deletion
mental retardation
dyspraxia
Parkin
FRA6E
Online Access:http://journal.frontiersin.org/article/10.3389/fgene.2017.00206/full

Internet

http://journal.frontiersin.org/article/10.3389/fgene.2017.00206/full

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