Article
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.
Journal of medical genetics - 21 May 2024
Morison Lottie D, Kennis Milou G P, Rots Dmitrijs, Bouman Arianne, Kummeling Joost, Palmer Elizabeth, Vogel Adam P, Liegeois Frederique, Brignell Amanda, Srivastava Siddharth, Frazier Zoe, Milnes Di, Goel Himanshu, Amor David J, Scheffer Ingrid E, Kleefstra Tjitske, Morgan Angela T
Abstract excerpt
OBJECTIVES: Speech and language impairments are core features of the neurodevelopmental genetic condition Kleefstra syndrome. Communication has not been systematically examined to guide intervention recommendations. We define the speech, language and cognitive phenotypic spectrum in a large cohort of individuals with Kleefstra syndrome. METHOD: 103 individuals with Kleefstra syndrome (40 males, median age 9.5...
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