Article
Patterns of X-linked inheritance: A new approach for the genome era.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2025
Basava Sanjana, Billington Charles J, Carrel Laura, Biesecker Leslie G, Dobyns William B
Abstract excerpt
PURPOSE: The concepts of X-linked (XL) dominant and recessive inheritance originated long before dosage compensation for X chromosome genes was understood, but now have no scientific basis. However, misunderstanding of the underlying biology persists, prompting our reassessment of XL inheritance. METHODS: We reviewed data on penetrance, expressivity, and X chromosome inactivation (XCI) for 55 XL genes and 57 XL...
Read the complete abstract on PubMedTopics
- Humans
- X Chromosome Inactivation
- Female
- Male
- Genes, X-Linked
- Penetrance