6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies

BACKGROUND: The interstitial 6p deletions, involving the 6p22-p24 chromosomal region, are rare events characterized by variable phenotypes and no clear genotype-phenotype correlation has been established so far. RESULTS: High resolution array-CGH identified 1 Mb de novo interstitial deletion in 6p22...

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Autors principals: Di Benedetto, Daniela, Di Vita, Giuseppa, Romano, Corrado, Giudice, Mariangela Lo, Vitello, Girolamo Aurelio, Zingale, Marinella, Grillo, Lucia, Castiglia, Lucia, Musumeci, Sebastiano Antonino, Fichera, Marco
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2013
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3564794/
https://ncbi.nlm.nih.gov/pubmed/23324214
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-6-4
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