Rodríguez-García, María Elena <br/><br/>
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 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1476-5438 
<br/><br/><label>Standard No.: </label>10.1038/s41431-019-0418-1  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Amino Acid Substitution<br/>Antiphospholipid Syndrome--diagnosis<br/>Brain--abnormalities<br/>Child, Preschool<br/>Comparative Genomic Hybridization<br/>Electron Transport<br/>Female<br/>Gain of Function Mutation<br/>Genes, Dominant<br/>Genotype<br/>Humans<br/>Karyotyping<br/>Magnetic Resonance Imaging<br/>Mitochondria, Muscle--genetics<br/>Neurodevelopmental Disorders--diagnosis<br/>Pedigree<br/>Phenotype<br/>Signal Transduction<br/>Syndrome<br/>TOR Serine-Threonine Kinases--genetics