Article

Further phenotypical delineation of DLG3-related neurodevelopmental disorders

2025-03-10

Abstract excerpt

<title>Abstract</title> <p>SAP102, a member of the membrane-associated guanylate kinase proteins family, is a scaffolding protein encoded by the <italic>DLG3</italic> gene whose hemizygous variants with loss-of-function effect are associated with X-linked Intellectual developmental disorder 90. We gathered international data from 17 new individuals with 16 different <italic>DLG3</italic> variants (10 with pathoge...

Topics

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

Identifiers and source

Literature Corpus work: abad8823-4b59-5276-b581-cd5383f7ee67
DOI: 10.21203/rs.3.rs-5998122/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Further phenotypical delineation of DLG3-related neurodevelopmental disordersDOI 10.21203/rs.3.rs-5998122/v1Read

Further phenotypical delineation of DLG3-related neurodevelopmental disorders.Semantic proximity Read

DLG3 variants caused X-linked epilepsy with/without neurodevelopmental disorders and the genotype-phenotype correlationSemantic proximity Read

A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation.Semantic proximity Read

Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical featuresSemantic proximity Read

Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.Semantic proximity Read

Phenotypic spectrum of SHANK2-related neurodevelopmental disorder.Semantic proximity Read

Case Study and Literature Review of Phelan-McDermid Syndrome Caused By a Pathogenic Mutation in The SHANK3 GeneSemantic proximity Read

ASXL3-related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism.Semantic proximity Read

A Novel De Novo Ddx3x Missense Variant in a Female With Brachycephaly and Intellectual Disability: A Case ReportSemantic proximity Read

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.Semantic proximity Read

DDX3X syndrome: a multicenter genotype-phenotype studySemantic proximity Read

Giant axonal neuropathy (GAN): cross-sectional data on phenotypes, genotypes, and proteomic signature from a German cohort.Semantic proximity Read