Article
Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families.
American journal of medical genetics. Part A - 30 Jan 2005
Mancini G M S, Catsman-Berrevoets C E, de Coo I F M, Aarsen F K, Kamphoven J H J, Huijmans J G, Duran M, van der Knaap M S, Jakobs C, Salomons G S
Abstract excerpt
Four Dutch male patients, two brothers from unrelated families were referred for investigation of psychomotor and severe language/speech delay. All four patients showed growth deficiency over the years. Facial features and poor body habitus were quite similar in the patients and in their mothers. Brain MRI showed nonspecific periventricular white matter lesions. In all the patients neuropsychological tests...
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