Trisomy 1q42.3‐qter and monosomy 21q22.3‐qter associated with ear anomaly, facial dysmorphology, psychomotor retardation, and epilepsy: Delineation of a new syndrome
Karin Tuschl(University College London), Olaf A. Bodamer(Broad Institute), Bárbara Fritz(Philipps University of Marburg), Christa Fonatsch(Medical University of Vienna), Marion Herle(Boston Children's Hospital)
Cited by 7
Related Papers
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease
|New England Journal of Medicine|2019|823
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy
|European Journal of Pediatrics|2007|535
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia
|Nature Communications|2016|326
Phenylketonuria Scientific Review Conference: State of the science and future research needs
|Molecular Genetics and Metabolism|2014|271
Kabuki syndrome: international consensus diagnostic criteria
|Journal of Medical Genetics|2018|251