2024
Ring Chromosome 12
Taylor H, Wen J. Ring Chromosome 12. 2024, 191-199. DOI: 10.1007/978-3-031-47530-6_16.Peer-Reviewed Original Research
2022
Genotype–Phenotype Correlations for Putative Haploinsufficient Genes in Deletions of 6q26-q27: Report of Eight Patients and Review of Literature
Xie X, Chai H, DiAdamo A, Grommisch B, Wen J, Zhang H, Li P. Genotype–Phenotype Correlations for Putative Haploinsufficient Genes in Deletions of 6q26-q27: Report of Eight Patients and Review of Literature. Global Medical Genetics 2022, 09: 166-174. PMID: 35707784, PMCID: PMC9192176, DOI: 10.1055/s-0042-1743568.Peer-Reviewed Original ResearchGenotype-phenotype correlationBrain abnormalitiesAnti-epilepsy treatmentCommon clinical findingVariable clinical featuresEarly-onset Parkinson's diseaseTerminal deletion syndromePathogenic copy number variantsReview of literatureAdult patientsClinical featuresClinical findingsClinical managementParkinson's diseasePatientsDistal critical regionSystematic reviewUnrelated patientsDevelopmental delayParental studiesFacial dysmorphismDeletion syndromeGenetic counselingIntellectual disabilitySeizures