A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome.

Rodríguez-García, María Elena

A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome. [electronic resource] - European journal of human genetics : EJHG 09 2019 - 1369-1378 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1476-5438

10.1038/s41431-019-0418-1 doi


Alleles
Amino Acid Substitution
Antiphospholipid Syndrome--diagnosis
Brain--abnormalities
Child, Preschool
Comparative Genomic Hybridization
Electron Transport
Female
Gain of Function Mutation
Genes, Dominant
Genotype
Humans
Karyotyping
Magnetic Resonance Imaging
Mitochondria, Muscle--genetics
Neurodevelopmental Disorders--diagnosis
Pedigree
Phenotype
Signal Transduction
Syndrome
TOR Serine-Threonine Kinases--genetics