A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report
Abstract Background De novo pathogenic variants in the DDX3X gene are reported to account for 1-3% of unexplained intellectual disability (ID) in females, leading to the rare disease known as DDX3X syndrome (MRXSSB, OMIM #300958). Besides ID, these patients manifest a variable clinical presentation,...
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BMC,
2021-03-01T00:00:00Z.
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A1234.567 |
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