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- Last updated: 29 December 2024 Print
Rett Syndrome : Clinical Genetics
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- Rett Syndrome
History of Genetics in Rett Syndrome
- Early Theories:
- X-linked dominant, male-lethal (XDML) inheritance model.
- Differences in severity linked to X-chromosome inactivation (XCI).
Molecular Genetics
- MECP2 mutations identified as the usual cause of classic RTT.
- Mutations arise predominantly during spermatogenesis.
Rett Syndrome Variants
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- Published:26 December 2024 Last Updated:29 December 2024
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