Brightman D et al. Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing. Clin Case Rep. 2018;6(8):1531–1534. PMID: 30147898.
Dery T et al. Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome. Eur J Med Genet. 2020;63(11):104044. PMID: 32861809.
De la Torre-García O et al. A homozygous CEP57 c.915_925dupCAATGTTCAGC mutation in a patient with mosaic variegated aneuploidy syndrome with rhizomelic shortening in the upper and lower limbs and a narrow thorax. Eur J Med Genet. 2019;62(3):195–197. PMID: 30010053.
Feng B et al. A novel CEP57 variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth. Mol Genet Genomic Med. 2022:e1951. PMID: 35434947.
Pinson L et al. CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome. Am J Med Genet. 2014;164(1):177–181. PMID: 24259107.
Santos-Simarro F et al. Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype. Eur J Med Genet. 2021;64(11):104338. PMID: 34500087.
Snape K et al. Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. Nat. Genet. 2011;43(6):527–529. PMID: 21552266.
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