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Features of Autism in Rett Syndrome and Severe Mental Retardation

✍ Scribed by Rebecca H. Mount; Tony Charman; Richard P. Hastings; Sheena Reilly; Hilary Cass

Book ID
111547626
Publisher
Springer US
Year
2003
Tongue
English
Weight
77 KB
Volume
33
Category
Article
ISSN
1573-3432

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A 3 Mb deletion in 14q12 causes severe m
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features
✍ Filomena Tiziana Papa; Maria Antonietta Mencarelli; Rossella Caselli; Eleni Katz πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 210 KB πŸ‘ 2 views

## Abstract The present report describes a 7‐year‐old girl with a de novo 3 Mb interstitial deletion of chromosome 14q12, identified by oligo array‐CGH. The region is gene poor and contains only five genes two of them, __FOXG1B__ and __PRKD1__ being deleted also in a previously reported case with a