A de novo 1.1–1.6 Mb subtelomeric deletion of chromosome 20q13.33 in a patient with learning difficulties but without obvious dysmorphic features
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
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2. Clinical Study of 30 Novel KCNQ2 Variants/Deletions in KCNQ2-Related Disorders;Frontiers in Molecular Neuroscience;2022-04-26
3. Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20;Case Reports in Genetics;2020-01-21
4. A CNV Catalogue;Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis;2017
5. Oculofacial Manifestations of Chromosomal Aberrations;The Eye in Pediatric Systemic Disease;2017
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