Variegated aneuploidy in two siblings: Phenotype, genotype, CENP-E analysis, and literature review
Author:
Publisher
Wiley
Subject
Genetics (clinical)
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1. Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome;Neurological Sciences;2022-07-09
2. Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies and developmental delay: a new syndrome;Clinical Genetics;2009-11
3. Clinical and genetic heterogeneity in patients with mosaic variegated aneuploidy: Delineation of clinical subtypes;American Journal of Medical Genetics Part A;2008-07-01
4. Mosaic variegated aneuploidy without microcephaly: Implications for cytogenetic diagnosis;American Journal of Medical Genetics Part A;2007
5. Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome;American Journal of Medical Genetics Part A;2005
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