TY  - GEN
AU  - Paolini,Nahuel A
AU  - Attwood,Martin
AU  - Sondalle,Samuel B
AU  - Vieira,Carolina Marques Dos Santos
AU  - van Adrichem,Anita M
AU  - di Summa,Franca M
AU  - O'Donohue,Marie-Françoise
AU  - Gleizes,Pierre-Emmanuel
AU  - Rachuri,Swaksha
AU  - Briggs,Joseph W
AU  - Fischer,Roman
AU  - Ratcliffe,Peter J
AU  - Wlodarski,Marcin W
AU  - Houtkooper,Riekelt H
AU  - von Lindern,Marieke
AU  - Kuijpers,Taco W
AU  - Dinman,Jonathan D
AU  - Baserga,Susan J
AU  - Cockman,Matthew E
AU  - MacInnes,Alyson W
TI  - A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism
SN  - 1537-6605
PY  - 2017///0510
KW  - Autism Spectrum Disorder
KW  - genetics
KW  - Carrier Proteins
KW  - Cells, Cultured
KW  - Child
KW  - Child, Preschool
KW  - Codon
KW  - Developmental Disabilities
KW  - Exome
KW  - Female
KW  - Fibroblasts
KW  - cytology
KW  - Genetic Variation
KW  - Hearing Loss
KW  - Humans
KW  - Intellectual Disability
KW  - Male
KW  - Microcephaly
KW  - Mutation
KW  - Mutation, Missense
KW  - Nuclear Proteins
KW  - Oxidative Stress
KW  - Protein Biosynthesis
KW  - Ribosomal Proteins
KW  - Ribosomes
KW  - Sequence Alignment
KW  - Sequence Analysis, DNA
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1016/j.ajhg.2017.01.034
ER  -