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Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation

✍ Scribed by Roberta Battini; Anna Chilosi; Davide Mei; Manuela Casarano; M. Grazia Alessandrì; Vincenzo Leuzzi; Giovanni Ferretti; Michela Tosetti; M. Cristina Bianchi; Giovanni Cioni


Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
102 KB
Volume
143A
Category
Article
ISSN
1552-4825

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## Abstract We describe the cytogenetic diagnosis using BAC‐ and oligonucleotide microarrays of a 16‐year‐old Laotian‐American female, who first presented at 2½ years of age with microcephaly, developmental retardation, and skeletal abnormalities of the upper limb including mild syndactyly of the s