Linked Life Data

16966553

Source:http://linkedlifedata.com/resource/pubmed/id/16966553

Statements in which the resource exists.
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pubmed-article:16966553pubmed:abstractTextWe describe the clinical and molecular findings of a 6-year-old boy carrying a novel missense 964C>T mutation on the MECP2 gene. The patient shows moderate mental retardation with autistic features and epilepsy. His mother is heterozygous for the same mutation.lld:pubmed
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pubmed-article:16966553pubmed:articleTitleA novel familial MECP2 mutation in a young boy: clinical and molecular findings.lld:pubmed
pubmed-article:16966553pubmed:affiliationDepartment of Neurorehabilitation 2 Psychopathological Disturbances in Childhood and Adolescence, Scientific Institute Eugenio Medea for Research, Hospitalization and Healthcare, Regional Branch of Ostuni (BR), Italy.lld:pubmed
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