Partial methylation of a pathogenic XYLT1 repeat expansion associated with intrafamilial variation in severity of Desbuquois dysplasia 2

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Date(s) of Professional Meeting

Nov. 1-5

Lead Author

Gordon, William

Name of Professional Meeting

ASHG - American Society of Human Genetics Annual Meeting

Program Number/Abstract ID

2024-A-3856-ASHG

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Partial methylation of a pathogenic XYLT1 repeat expansion associated with intrafamilial variation in severity of Desbuquois dysplasia 2