Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features
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DOI: 10.1212/nxg.0000000000000659
Abstract: Background and Objectives Isolated paroxysmal kinesigenic dyskinesia (PKD) is mainly caused by PRRT2 variants and TMEM151A variants. Patients with proximal 16p11.2 microdeletion (16p11.2MD) (including PRRT2) often have neurodevelopmental phenotypes, whereas a few patients have PKD.… read more here.
Keywords: patients pkd; 16p11 2md; 16p11 microdeletion; paroxysmal kinesigenic ... See more keywords
Prenatal Diagnosis of Chromosome 16p11.2 Microdeletion
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DOI: 10.3390/genes13122315
Abstract: (1) Objective: To investigate the prenatal diagnosis and genetic counseling for 16p11.2 microdeletion syndrome and to evaluate its pregnancy outcome. (2) Methods: This study included 4968 pregnant women who selected invasive prenatal diagnoses from 1… read more here.
Keywords: microdeletion; microdeletion syndrome; 16p11 microdeletion; prenatal diagnosis ... See more keywords