Mosaic Variegated Aneuploidy Syndrome Latest Advances
Find the Latest Research About Mosaic Variegated Aneuploidy Syndrome
Last Updated: 04/28/2026
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Found 84 publications
A novel CEP57 gene mutation in mosaic variegated aneuploidy syndrome 2: case report.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: November 10, 2025
Genetic analysis of two fetuses with Mosaic variegated aneuploidy syndrome caused by compound heterozygous variants in BUB1B and its upstream regulatory elements and a literature Review
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: June 24, 2025
BubR1 Controls Heart Development by Promoting Expression of Cardiogenesis Regulators.
Journal: Journal of the American Heart Association
Published: March 07, 2025
Mosaic variegated aneuploidy in development, ageing and cancer.
Journal: Nature reviews. Genetics
Published: June 27, 2024
A Distinctive Type of Mosaic Variegated Aneuploidy: Case Report and Review of the Literature.
Journal: American journal of medical genetics. Part A
Published: May 30, 2024
Sudden unexpected postnatal collapse and BUB1B mutation: first forensic case report.
Journal: International journal of legal medicine
Published: February 07, 2024
RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing.
Journal: Journal of human genetics
Published: August 09, 2023
Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum.
Journal: Clinical genetics
Published: September 18, 2022
Mosaic Variegated Aneuploidy Syndrome and Noonan Syndrome in the Same Family.
Journal: Molecular syndromology
Published: January 12, 2022
A novel CEP57 variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth.
Journal: Molecular genetics & genomic medicine
Published: November 26, 2021
Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype.
Journal: European journal of medical genetics
Published: April 06, 2021
Last Updated: 04/28/2026