Research graph
References from Rare Xq23 Microdeletion Involving the DCX and PAK3 Genes Presenting With Lissencephaly, Agenesis of the Corpus Callosum, and Intractable Epilepsy: A Case Report. Local targets link to admitted publications; unresolved targets remain external evidence.
Lissencephaly: update on diagnostics and clinical management
10.1016/j.ejpn.2021.09.013 · 2021 · External reference
DCX-related disorders
2025 · External reference
A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature
10.1101/mcs.a003988 · 2019 · External reference
Clinical features in patients with Xq23 microdeletion: a case report and literature review
10.4274/jcrpe.galenos.2020.2020.0100 · 2022 · External reference
Whole-exome sequencing for identifying genetic causes of intellectual developmental disorders
10.2147/ijgm.s300775 · 2021 · External reference
X-linked epilepsies: a narrative review
10.3390/ijms25074110 · 2024 · External reference
Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report
10.1186/s12881-020-0957-x · 2020 · External reference
Lissencephaly
2025 · External reference
Gene-specific long-term course, neurodevelopmental outcome and quality of life in patients with LIS1/PAFAH1B1-, DCX-, DYNC1H1-, TUBA1A- and TUBG1-related lissencephaly
10.1186/s13023-026-04398-z · 2026 · External reference
The molecular basis of p21-activated kinase-associated neurodevelopmental disorders: from genotype to phenotype
10.3389/fnins.2023.1123784 · 2023 · External reference
AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis
10.1136/jmedgenet-2016-104100 · 2017 · External reference
Lissencephaly: update on diagnostics and clinical management
10.1016/j.ejpn.2021.09.013 · ExternalCitation · doi-reference
A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature
10.1101/mcs.a003988 · ExternalCitation · doi-reference
AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis
10.1136/jmedgenet-2016-104100 · ExternalCitation · doi-reference
Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report
10.1186/s12881-020-0957-x · ExternalCitation · doi-reference
Gene-specific long-term course, neurodevelopmental outcome and quality of life in patients with LIS1/PAFAH1B1-, DCX-, DYNC1H1-, TUBA1A- and TUBG1-related lissencephaly
10.1186/s13023-026-04398-z · ExternalCitation · doi-reference
Whole-exome sequencing for identifying genetic causes of intellectual developmental disorders
10.2147/ijgm.s300775 · ExternalCitation · doi-reference
The molecular basis of p21-activated kinase-associated neurodevelopmental disorders: from genotype to phenotype
10.3389/fnins.2023.1123784 · ExternalCitation · doi-reference
X-linked epilepsies: a narrative review
10.3390/ijms25074110 · ExternalCitation · doi-reference
Clinical features in patients with Xq23 microdeletion: a case report and literature review
10.4274/jcrpe.galenos.2020.2020.0100 · ExternalCitation · doi-reference
