A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism

BACKGROUND: A child with autism and mild microcephaly was found to have a de novo 3.3 Mb microdeletion on chromosome 1p34.2p34.3. The hypothesis is tested that this microdeletion contains one or more genes that underlie the autism phenotype in this child and in other children with autism spectrum di...

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Detalles Bibliográficos
Autores principales: Kumar, Ravinesh A, Sudi, Jyotsna, Babatz, Timothy D, Brune, Camille W, Oswald, Donald, Yen, Mayon, Nowak, Norma J, Cook, Edwin H, Christian, Susan L, Dobyns, William B
Formato: Texto
Lenguaje:English
Publicado: BMJ Group 2009
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2921284/
https://www.ncbi.nlm.nih.gov/pubmed/19546099
http://dx.doi.org/10.1136/jmg.2008.065821

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2921284/
https://www.ncbi.nlm.nih.gov/pubmed/19546099
http://dx.doi.org/10.1136/jmg.2008.065821

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