MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution
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MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution.
Rett syndrome (RTT) is one of the most frequent neurodevelopmental disorders affecting almost exclusively females. It is characterised by normal development until 6-18 months followed by a more or less rapid decline of acquired functions mainly of the higher brain functions, such as communicative speech and purposeful hand use. Mutations in the MECP2 gene have been described in RTT patients wor...
متن کاملLETTER TO JMG MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution
Rett syndrome (RTT) is one of the most frequent neurodevelopmental disorders affecting almost exclusively females. It is characterised by normal development until 6-18 months followed by a more or less rapid decline of acquired functions mainly of the higher brain functions, such as communicative speech and purposeful hand use. Mutations in the MECP2 gene have been described in RTT patients wor...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2002
ISSN: 1468-6244
DOI: 10.1136/jmg.39.8.586