Article

Heterozygous loss-of function variants in DOCK4 cause neurodevelopmental delay and microcephaly

2023-11-14

Abstract excerpt

Neurons form the basic anatomical and functional structure of the nervous system, and defects in neuronal differentiation or formation of neurites are associated with various psychiatric and neurodevelopmental disorders. Dynamic changes in the cytoskeleton are essential for this process, which is, inter alia, controlled by the dedicator of cytokinesis 4 ( DOCK4 ) through the activation of RAC1 . Here, we clinicall...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 659ffe64-bf09-563f-875c-dc032cb0ffa5
DOI: 10.21203/rs.3.rs-3579921/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Heterozygous loss-of function variants in DOCK4 cause neurodevelopmental delay and microcephalyDOI 10.21203/rs.3.rs-3579921/v1Read

Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.Semantic proximity Read

DOCK7 regulates WNT signaling and NMJ clustering in normal and DMD muscleSemantic proximity Read

DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.Semantic proximity Read

Rare structural variants in the DOCK8 gene identified in a cohort of 439 patients with neurodevelopmental disorders.Semantic proximity Read

Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum.Semantic proximity Read

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.Semantic proximity Read

Expanding the phenotypic spectrum of TRAF7 syndrome: report of eleven new cases and literature reviewSemantic proximity Read

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.Semantic proximity Read

Expanding the Phenotypic Spectrum of Raynaud-Claes Syndrome: A Rett-like Presentation with Two New Cases.Semantic proximity Read

Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations.Semantic proximity Read

Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability.Semantic proximity Read

Familial Presentation of a Rare NCKAP1 Splice-Site Variant Associated With a Neurodevelopmental Disorder and Cutaneous Manifestations.Semantic proximity Read