TY  - GEN
AU  - Rodríguez-García,María Elena
AU  - Cotrina-Vinagre,Francisco Javier
AU  - Bellusci,Marcello
AU  - Martínez de Aragón,Ana
AU  - Hernández-Sánchez,Laura
AU  - Carnicero-Rodríguez,Patricia
AU  - Martín-Hernández,Elena
AU  - Martínez-Azorín,Francisco
TI  - A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome
SN  - 1476-5438
PY  - 2020///0612
KW  - Alleles
KW  - Amino Acid Substitution
KW  - Antiphospholipid Syndrome
KW  - diagnosis
KW  - Brain
KW  - abnormalities
KW  - Child, Preschool
KW  - Comparative Genomic Hybridization
KW  - Electron Transport
KW  - Female
KW  - Gain of Function Mutation
KW  - Genes, Dominant
KW  - Genotype
KW  - Humans
KW  - Karyotyping
KW  - Magnetic Resonance Imaging
KW  - Mitochondria, Muscle
KW  - genetics
KW  - Neurodevelopmental Disorders
KW  - Pedigree
KW  - Phenotype
KW  - Signal Transduction
KW  - Syndrome
KW  - TOR Serine-Threonine Kinases
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/s41431-019-0418-1
ER  -