Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children

BACKGROUND: terminal deletions of the distal portion of the short arm of chromosome 3 cause a rare contiguous gene disorder characterized by growth retardation, developmental delay, mental retardation, dysmorphisms, microcephaly and ptosis. The phenotype of individuals with deletions varies from nor...

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Autors principals: Cuoco, Cristina, Ronchetto, Patrizia, Gimelli, Stefania, Béna, Frédérique, Divizia, Maria Teresa, Lerone, Margherita, Mirabelli-Badenier, Marisol, Mascaretti, Monica, Gimelli, Giorgio
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2011
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3090742/
https://ncbi.nlm.nih.gov/pubmed/21457564
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-6-12
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