Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene

Keyphrases

• Disease Genes 100%
• Long-term Survival 100%
• RBM10 100%
• TARP Syndrome 100%
• Cleft Palate 50%
• Atrial Septal Defect 50%
• Pulmonary Hypertension 25%
• Hearing Aids 25%
• Ablation 25%
• Exon 25%
• Counseling 25%
• Corpus Callosum Agenesis 25%
• Palpebral Fissure 25%
• Pulmonary Hypoplasia 25%
• Talipes Equinovarus 25%
• Non-communicable 25%
• Caudate 25%
• X Chromosome 25%
• Linkage Study 25%
• Heterozygosity 25%
• Frameshift mutation 25%
• Accurate Diagnosis 25%
• Early Infancy 25%
• Atrial Reentry 25%
• Chronic Lung Disease 25%
• X-linked Disorder 25%
• Preterm Delivery 25%
• Persistent Left Superior Vena Cava (PLSVC) 25%
• Optic Atrophy 1 (OPA1) 25%
• Lower Sets 25%
• Micrognathia 25%
• Atrial Flutter 25%
• Cerebellar Hypoplasia 25%
• Maternally Inherited 25%
• Structural Brain Abnormalities 25%
• Massively Parallel Sequencing 25%
• Intra-atrial 25%
• Angulated 25%
• Cerebral Visual Impairment 25%
• Cryptorchidism 25%
• Ventilator Dependence 25%
• Perinatal Lethality 25%
• Gastrojejunostomy Tube 25%
• Partial Agenesis 25%
• Glossoptosis 25%
• Robin Sequence 25%
• Megacisterna Magna 25%
• Absent Right Superior Vena Cava 25%
• Phenotypic Spectrum 25%
• Sensorineural Hearing Loss 25%
• Severe Intellectual Disability 25%
• Entry Pathway 25%

Medicine and Dentistry

• Long Term Survival 100%
• Diseases 100%
• Cleft Palate 50%
• Atrial Septal Defect 50%
• Gene Linkage 25%
• Pulmonary Hypertension 25%
• Optic Nerve Atrophy 25%
• Lethality 25%
• Reentry Arrhythmia 25%
• Premature Labor 25%
• Palpebral Fissure 25%
• Foot Malformation 25%
• Pulmonary Hypoplasia 25%
• Sensorineural Hearing Loss 25%
• Counseling 25%
• Chronic Lung Disease 25%
• Heterozygosity 25%
• Persistent Left Superior Vena Cava 25%
• Superior Vena Cava 25%
• Brain Abnormalities 25%
• Micrognathism 25%
• Infancy 25%
• Cryptorchism 25%
• Pierre Robin Syndrome 25%
• Atrial Flutter 25%
• Cerebellum Hypoplasia 25%
• Glossoptosis 25%
• Corpus Callosum Agenesis 25%
• Intellectual Disability 25%
• Exon 25%
• X Chromosome 25%
• Frameshift Mutation 25%
• Hearing 25%
• Preterm Delivery 25%
• Cortical Visual Impairment 25%

Biochemistry, Genetics and Molecular Biology

• Long Term Survival 100%
• Hearing 100%
• X Chromosome 50%
• Exon 50%
• Frameshift Mutation 50%
• Mental Retardation 50%
• Heterozygosity 50%
• Infancy 50%
• Gene Linkage 50%
• Deep Sequencing 50%
• Atrial Flutter 50%
• Optics 50%