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.
McMillan, Hugh J
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. [electronic resource] - Journal of child neurology Jul 2015 - 1037-43 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1708-8283
10.1177/0883073814553272 doi
Child
DNA Mutational Analysis
Disease Progression
Humans
Longitudinal Studies
Lysine-tRNA Ligase--genetics
Male
Microcephaly--complications
Mutation--genetics
Phenotype
Vision Disorders--complications
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. [electronic resource] - Journal of child neurology Jul 2015 - 1037-43 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1708-8283
10.1177/0883073814553272 doi
Child
DNA Mutational Analysis
Disease Progression
Humans
Longitudinal Studies
Lysine-tRNA Ligase--genetics
Male
Microcephaly--complications
Mutation--genetics
Phenotype
Vision Disorders--complications