Mosaic variegated aneuploidy with growth hormone deficiency and congenital heart defects
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference18 articles.
1. The spindle checkpoint
2. Complications of growth hormone therapy in children
3. Mutations of mitotic checkpoint genes in human cancers
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5. The DNA sequence of human chromosome 21
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1. Mosaic variegated aneuploidy syndrome with tetraploid, and predisposition to male infertility triggered by mutant CEP192;Human Genetics and Genomics Advances;2024-01
2. Mosaic variegated aneuploidy syndrome with tetraploid, and predisposition to male infertility triggered by mutantCEP192;2023-07-26
3. Unique progerin C-terminal peptide ameliorates Hutchinson–Gilford progeria syndrome phenotype by rescuing BUBR1;Nature Aging;2023-02-02
4. Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome;Neurological Sciences;2022-07-09
5. Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype;European Journal of Medical Genetics;2021-11
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