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Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

Journal of Medical Genetics 43(5): 451-456

MECP2 mutations are identifiable in similar to 80% of classic Rett syndrome (RTT), but less frequently in atypical RTT. We recruited 110 patients who fulfilled the diagnostic criteria for Rett syndrome and were referred to Cardiff for molecular analysis, but in whom an MECP2 mutation was not identifiable. Dosage analysis of MECP2 was carried out using multiplex ligation dependent probe amplification or quantitative fluorescent PCR.

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Accession: 012132278

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PMID: 16183801

DOI: 10.1136/jmg.2005.033464

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