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Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype.
Santos-Simarro F, Pacio M, Cueto-González AM, Mansilla E, Valenzuela-Palafoll MI, López-Grondona F, Lledín MD, Schuffelmann C, Del Pozo Á, Solis M, Vallcorba P, Lapunzina P, Menéndez Suso JJ, Siccha SM, Montejo JM, Mena R, Jiménez-Rodríguez C, García-Miñaúr S, Palomares-Bralo M. Santos-Simarro F, et al. Eur J Med Genet. 2021 Nov;64(11):104338. doi: 10.1016/j.ejmg.2021.104338. Epub 2021 Sep 7. Eur J Med Genet. 2021. PMID: 34500087 Review.
Mosaic Variegated Aneuploidy Syndrome 2 (MVA2; MIM 614114) is a rare autosomal recessive disorder, characterized by mosaic aneuploidies involving multiple chromosomes and tissues, caused by biallelic pathogenic variants in the CEP57 gene. ...
Mosaic Variegated Aneuploidy Syndrome 2 (MVA2; MIM 614114) is a rare autosomal recessive disorder, characterized …
Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum.
Langeh N, Saluja S, Ethayathulla AS, Jana M, Shukla R, Palanichamy JK, Gupta N. Langeh N, et al. Clin Genet. 2023 Apr;103(4):478-483. doi: 10.1111/cge.14297. Epub 2023 Jan 23. Clin Genet. 2023. PMID: 36635612
Mosaic variegated aneuploidy syndrome 2 (MVA2) (MIM# 614114) is a rare autosomal recessive condition caused by biallelic loss of function variants in the CEP57 gene. ...
Mosaic variegated aneuploidy syndrome 2 (MVA2) (MIM# 614114) is a rare autosomal recessive condition caused by b …
Mosaic Variegated Aneuploidy Syndrome and Noonan Syndrome in the Same Family.
Hübner CT, Amin AK, Dey D, Meyer R, Eggermann T. Hübner CT, et al. Mol Syndromol. 2022 Dec;13(5):402-408. doi: 10.1159/000523877. Epub 2022 Mar 31. Mol Syndromol. 2022. PMID: 36588761 Free PMC article.
INTRODUCTION: Mosaic variegated aneuploidy syndrome 2 (MVA2) and Noonan syndrome (NS) are 2 genetic disorders with overlapping clinical features, including intrauterine growth retardation, dysmorphic features, and heart defects. ...
INTRODUCTION: Mosaic variegated aneuploidy syndrome 2 (MVA2) and Noonan syndrome (NS) are 2 genetic disorders wi …
Refractory infantile spasms associated with mosaic variegated aneuploidy syndrome.
Akasaka N, Tohyama J, Ogawa A, Takachi T, Watanabe A, Asami K. Akasaka N, et al. Pediatr Neurol. 2013 Nov;49(5):364-7. doi: 10.1016/j.pediatrneurol.2013.05.014. Epub 2013 Aug 2. Pediatr Neurol. 2013. PMID: 23916859
BACKGROUND: Mosaic variegated aneuploidy syndrome (Online Mendelian Inheritance in Man 257300), or premature chromatid separation syndrome, is a rare cancer-prone disorder associated with an autosomal recessive trait related to BUB1B gene mutations. .. …
BACKGROUND: Mosaic variegated aneuploidy syndrome (Online Mendelian Inheritance in Man 257300), or premature chr …
82 results