Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome.

6533b7d5fe1ef96bd1263cf0

RESEARCH PRODUCT

Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome.

Piero Pavone Xena Giada Pappalardo Naira Mustafa Raffaele Falsaperla Simona Domenica Marino Giovanni Corsello Sebastiano Bianca Enrico Parano Martino Ruggieri

subject

BUB1B gene Epileptic seizure Microcephaly Mosaic variegated aneuploidy 1 (MVA1) syndrome Ovary cyst Mosaicism Cell Cycle Proteins Ovary cyst Dermatology General Medicine Syndrome BUB1B gene Protein Serine-Threonine Kinases Aneuploidy Psychiatry and Mental health Seizures Mosaic variegated aneuploidy 1 (MVA1) syndrome Mutation Epileptic seizure Microcephaly Humans Neurology (clinical)

description

Funder: Università degli Studi di Catania

year	journal	country	edition	language
2022-11-01	Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

10.1007/s10072-022-06247-w https://pubmed.ncbi.nlm.nih.gov/35804254

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