Associated Papers
Mosaic variegated aneuploidy in development, ageing and cancer.
Malumbres M et al.
Nature Reviews. Genetics, 2024
Cep57 regulates human centrosomes through multivalent interactions.
Yeh HW et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Mosaic Variegated Aneuploidy Syndrome and Noonan Syndrome in the Same Family.
Hübner CT et al.
Molecular Syndromology, 2022
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.
De la Torre-García O et al.
European Journal of Medical Genetics, 2019
The Cep57-pericentrin module organizes PCM expansion and centriole engagement.
Watanabe K et al.
Nature Communications, 2019
CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.
Pinson L et al.
American Journal of Medical Genetics. Part A, 2014
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.
Snape K et al.
Nature Genetics, 2011
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