TY  - GEN
AU  - Martín-Hernández,Elena
AU  - Rodríguez-García,María Elena
AU  - Camacho,Ana
AU  - Matilla-Dueñas,Antoni
AU  - García-Silva,María Teresa
AU  - Quijada-Fraile,Pilar
AU  - Corral-Juan,Marc
AU  - Tejada-Palacios,Pilar
AU  - de Las Heras,Rogelio Simón
AU  - Arenas,Joaquín
AU  - Martín,Miguel A
AU  - Martínez-Azorín,Francisco
TI  - New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy
SN  - 1364-6753
PY  - 2018///0209
KW  - Adenosine Triphosphatases
KW  - genetics
KW  - Brain Diseases
KW  - complications
KW  - Child
KW  - Child, Preschool
KW  - Chorea
KW  - Female
KW  - Homozygote
KW  - Humans
KW  - Intellectual Disability
KW  - Muscle Hypotonia
KW  - Mutation
KW  - Optic Atrophy
KW  - Pedigree
KW  - Phospholipid Transfer Proteins
KW  - Syndrome
KW  - Exome Sequencing
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1007/s10048-016-0496-y
ER  -