Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

Interstitial deletions of the short arm of chromosome 6 are rare and have been associated with developmental delay, hypotonia, congenital anomalies, and dysmorphic features. We used array comparative genomic hybridization in a South Carolina Autism Project (SCAP) cohort of 97 subjects with autism sp...

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Hlavní autoři: Celestino-Soper, Patrícia BS, Skinner, Cindy, Schroer, Richard, Eng, Patricia, Shenai, Jayant, Nowaczyk, Malgorzata MJ, Terespolsky, Deborah, Cushing, Donna, Patel, Gayle S, Immken, LaDonna, Willis, Alecia, Wiszniewska, Joanna, Matalon, Reuben, Rosenfeld, Jill A, Stevenson, Roger E, Kang, Sung-Hae L, Cheung, Sau Wai, Beaudet, Arthur L, Stankiewicz, Pawel
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2012
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3351998/
https://ncbi.nlm.nih.gov/pubmed/22480366
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-5-17
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