A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome. [electronic resource]
Producer: 20200612Description: 1369-1378 p. digitalISSN:- 1476-5438
- 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
No physical items for this record
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.