Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe n...
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration
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English
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BACKGROUNDDuplications of MECP2 gene in males cause a syndrome characterized by distinctive clinical features, including severe to profound mental retardation, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity and recurrent infections. Patients with complex chromosome rearran...
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Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration
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TN_cdi_proquest_miscellaneous_1701299344
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1701299344
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1755-8166
E-ISSN
1755-8166
DOI
10.1186/s13039-015-0164-1
