P232: Novel de novo intronic KAT6B variant in 9-year-old female adds to the wide phenotypic spectrum of KAT6B disorders

Bibliographic Details
Main Authors: Lingying Liu, Paul Hillman
Format: Article
Language:English
Published: Elsevier 2023-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774423002601