TY  - GEN
AU  - McMillan,Hugh J
AU  - Humphreys,Peter
AU  - Smith,Amanda
AU  - Schwartzentruber,Jeremy
AU  - Chakraborty,Pranesh
AU  - Bulman,Dennis E
AU  - Beaulieu,Chandree L
AU  - Majewski,Jacek
AU  - Boycott,Kym M
AU  - Geraghty,Michael T
TI  - Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease
SN  - 1708-8283
PY  - 2016///0315
KW  - Child
KW  - DNA Mutational Analysis
KW  - Disease Progression
KW  - Humans
KW  - Longitudinal Studies
KW  - Lysine-tRNA Ligase
KW  - genetics
KW  - Male
KW  - Microcephaly
KW  - complications
KW  - Mutation
KW  - Phenotype
KW  - Vision Disorders
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1177/0883073814553272
ER  -