De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children.

doi:10.1016/j.pediatrneurol.2023.08.023

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Article

De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children.

Pediatric neurology - 1 Nov 2023

Ahmad Natalie, Fazeli Walid, Schließke Sophia, Lesca Gaetan, Gokce-Samar Zeynep, Mekbib Kedous Y, Jin Sheng Chih, Burton Jennifer, Hoganson George, Petersen Andrea, Gracie Sara, Granger Leslie, Bartels Enrika, Oppermann Henry, Kundishora Adam, Till Marianne, Milleret-Pignot Clara, Dangerfield Shane, Viskochil David, Anderson Katherine J, Palculict Timothy Blake, Schnur Rhonda E, Wentzensen Ingrid M, Tiller George E, Kahle Kristopher T, Kunz Wolfram S, Burkart Sebastian, Simons Matias, Sticht Heinrich, Abou Jamra Rami, Neuser Sonja

Abstract excerpt

BACKGROUND: RAB11B was described previously once with a severe form of intellectual disability. We aim at validation and delineation of the role of RAB11B in neurodevelopmental disorders. METHODS: We present seven novel individuals with disease-associated variants in RAB11B when compared with the six cases described in the literature. We performed a cross-sectional analysis to identify the clinical spectrum and...

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Identifiers

PMID: 37734130
DOI: 10.1016/j.pediatrneurol.2023.08.023

Genes

RAB11B

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