A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation

BACKGROUND: Previous studies focusing on candidate genes and chromosomal regions identified several copy number variations (CNVs) associated with increased risk of autism or autism spectrum disorders (ASD). CASE PRESENTATION: We describe a 17-year-old girl with autism, severe mental retardation, epi...

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Detalles Bibliográficos
Autores principales: Abu-Amero, Khaled K, Hellani, Ali M, Salih, Mustafa A, Seidahmed, Mohammad Z, Elmalik, Tageldin S, Zidan, Ghassan, Bosley, Thomas M
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2946294/
https://www.ncbi.nlm.nih.gov/pubmed/20858261
http://dx.doi.org/10.1186/1471-2350-11-135

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2946294/
https://www.ncbi.nlm.nih.gov/pubmed/20858261
http://dx.doi.org/10.1186/1471-2350-11-135

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