Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family
Abstract Background Chromosomal duplication at the Xq28 region including the MECP2 gene, share consistent clinical phenotypes and a distinct facial phenotype known as MECP2 duplication syndrome. The typical clinical features include infantile hypotonia , mild dysmorphic features, a broad range of ne...
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| Main Authors: | , , , , , , , , , |
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| Format: | Book |
| Published: |
BMC,
2017-11-01T00:00:00Z.
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