Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analy...
Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis
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United States: John Wiley & Sons, Inc
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Language
English
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Publisher
United States: John Wiley & Sons, Inc
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Background
Rett syndrome (RTT) is a developmental disorder with an early onset and X‐linked dominant inheritance pattern. It is first recognized in infancy and is seen almost always in girls, but it may be seen in boys on rare occasions. Typical RTT is caused by de novo mutations of the gene MECP2 (OMIM*300005), and atypical forms of RTT can be...
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Full title
Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis
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TN_cdi_doaj_primary_oai_doaj_org_article_1c84a3c1e8154de99ac1fb8e067727f2
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_1c84a3c1e8154de99ac1fb8e067727f2
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ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.793
