Cohen syndrome diagnosed using microarray comparative genomic hibridization

Cohen syndrome diagnosed using microarray comparative genomic hibridization

Cohen syndrome (CS) is an uncommon autosomal recessive genetic disorder attributed to damage on VPS13B gene, locus 8q22-q23. Characteristic phenotype consists of intellectual disability, microcephaly, facial dysmorphism, ophthalmic abnormalities, truncal obesity and hipotony. Worldwide, around 150 c...

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Bibliographic Details
Main Authors: Saldarriaga-Gil, Wilmar, Collazos-Saa, Laura, Ramírez-Cheyne, Julián
Format: Article
Language:Spanish
Published: Universidad de Antioquia 2017-10-01
Series:Iatreia
Subjects:
Human
Chromosome Disorders
Comparative Genomic Hybridization
Chromosomes Human
Pair 8
Hipotony
Intellectual Disability
Online Access:http://aprendeenlinea.udea.edu.co/revistas/index.php/iatreia/article/view/26867/20785592

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