TY  - GEN
AU  - Pinson,Lucile
AU  - Mannini,Linda
AU  - Willems,Marjolaine
AU  - Cucco,Francesco
AU  - Sirvent,Nicolas
AU  - Frebourg,Thierry
AU  - Quarantotti,Valentina
AU  - Collet,Corinne
AU  - Schneider,Anouck
AU  - Sarda,Pierre
AU  - Geneviève,David
AU  - Puechberty,Jacques
AU  - Lefort,Geneviève
AU  - Musio,Antonio
TI  - CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome
SN  - 1552-4833
PY  - 2015///0413
KW  - Aneuploidy
KW  - Child, Preschool
KW  - Chromosome Disorders
KW  - diagnosis
KW  - Consanguinity
KW  - DNA Mutational Analysis
KW  - Facies
KW  - Female
KW  - Humans
KW  - Microtubule-Associated Proteins
KW  - genetics
KW  - Mosaicism
KW  - Mutation
KW  - Nuclear Proteins
KW  - Pedigree
KW  - Phenotype
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ajmg.a.36166
ER  -