Disease: Micrencephaly corpus callosum agenesis
- <em>EPG5</em>-Related Disorder
- 3'UTR Deletion of <em>NONO</em> Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein's Anomaly in a Male Fetus
- 3'UTR Deletion of NONO Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein's Anomaly in a Male Fetus
- A founder PPIL1 variant underlies a recognizable form of microlissencephaly with pontocerebellar hypoplasia
- A nationwide survey of Vici syndrome in Japan
- Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
- Case Report: Prenatal Recurrent Microcephaly and Corpus Callosum Abnormalities in a Chinese Family with Novel Biallelic SASS6 Mutations
- Clinical and molecular characterization of 1q43q44 deletion and corpus callosum malformations: 2 new cases and literature review
- Clinical Presentation and Molecular Characterization of 3 Patients with Vici Syndrome: Two Novel Variants in the <em>EPG5</em> Gene
- Congenital complete arhinia with alobar holoprosencephaly
- Cranial vault reduction cranioplasty for severe macrocephaly due to holoprosencephaly and subdural hygroma: a case report
- Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia
- Genotype-phenotype correlation in CLCN4-related developmental and epileptic encephalopathy
- Inhibitory synapse dysfunction and epileptic susceptibility associated with KIF2A deletion in cortical interneurons
- Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development
- Interstitial Deletion of 3q21 in a Kuwaiti Child with Multiple Congenital Anomalies-Expanding the Phenotype
- Management of an older Marshall-Smith syndrome patient: a review of literature of MSS and craniosynostosis
- Muscle spasms as presenting feature of Nivelon-Nivelon-Mabile syndrome
- Rare metabolic disease mimicking COL4A1/COL4A2 fetal brain phenotype
- Reported congenital malformations after exposure to non-tumour necrosis factor inhibitor biologics: A retrospective comparative study in EudraVigilance
- The Warburg micro syndrome protein RAB3GAP1 modulates neuronal morphogenesis and interacts with axon elongation end ER-Golgi trafficking factors
- Tubulin mutations in human neurodevelopmental disorders