Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype

Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?

(2020) Lidia Pezzani et al.   Molecular Genetics & Genomic Medicine

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

(2018) Oliver De la Torre-García et al.   European Journal of Medical Genetics

Mosaic-variegated aneuploidy syndrome mutation or haploinsufficiency in Cep57 impairs tumor suppression

(2018) Khaled Aziz et al.   JOURNAL OF CLINICAL INVESTIGATION

Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation

(2017) Shawn Yost et al.   NATURE GENETICS

Autosomal Recessive Primary Microcephaly (MCPH): An Update

(2017) Deborah Morris-Rosendahl et al.   NEUROPEDIATRICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome

(2013) Lucile Pinson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Aneuploidy in health, disease, and aging

(2013) Robin M. Ricke et al.   JOURNAL OF CELL BIOLOGY

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

(2011) Katie Snape et al.   NATURE GENETICS

Boveri revisited: chromosomal instability, aneuploidy and tumorigenesis

(2009) Andrew J. Holland et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Aneuploidy: Cells Losing Their Balance

(2008) Eduardo M. Torres et al.   GENETICS