Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome-Reference-Cited by-同舟云学术

Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome

Published:2020-11 Issue:11 Volume:63 Page:104044
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Dery Tania,Chatron Nicolas,Alqahtani Amerh,Pugeat Michel,Till Marianne,Edery Patrick,Sanlaville Damien,Schluth-Bolard Caroline,Nicolino Marc,Lesca Gaetan,Putoux Audrey

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference16 articles.

1. Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing;Brightman;Clin Case Rep,2018

2. Human BUBR1 is a mitotic checkpoint kinase that monitors CENP-E functions at kinetochores and binds the cyclosome/APC;Chan;J. Cell Biol.,1999

3. Inv(10)(p11.2q21.2), a variant chromosome;Collinson;Hum. Genet.,1997

4. 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;Eur. J. Med. Genet.,2019

5. Xenopus Cep57 is a novel kinetochore component involved in microtubule attachment;Emanuele;Cell,2007

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