TAF1 Variants are associated with dysmorphic features, intellectual disability, and neurological manifestations
- Resource Type
- Source
- Papai, G., Weil, P.A., Schultz, P., New insights into the function of transcription factor TFIID from recent structural studies (2011) Curr. Opin. Genet. Dev., 21, pp. 219-224
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
American Journal of Human Genetics, 97, 6, pp. 922-32
American Journal of Human Genetics, 97, 922-32
American Journal of Human Genetics, 97(6), 922-932
The American Journal of Human Genetics - Subject
Proband Male Gene Mutation Neurologic Features Developmental Disabilities Intellectual Impairment Inheritance Patterns Intergluteal Crease Tata-Binding Protein Associated Factors E-Box Elements Gene Duplication Recessive Inheritance Pathology Genetics(clinical) Child Gene knockdown Clinical Article Genetic Screening Neurodegeneration Pedigree developmental delay Dystonia Child, Preschool Priority Journal dystonia Transcription Factor Iid Human Disease Model Article Rna Sequence Unclassified Drug Histone Acetyltransferase Intellectual Disability Genetics Humans Family Degenerative Disease TATA-Binding Protein Associated Factors Face Dysmorphia Phenotypic Variation School Child Animal Infant Transcription Factor Tfiid facial dysmorphology medicine.disease Tata-Binding Protein Associated Factor 25 Kda Nerve Degeneration Mutation intergluteal crease Single Nucleotide Polymorphism Transcription Factor TFIID Developmental Disorder Transcription Factor Facial Dysmorphology Zebra Fish Clinical Evaluation Family Assessment Abnormal Gait Intellectual disability neurologic features Down Regulation Global developmental delay Preschool Child Zebrafish Tata Binding Protein Associated Factor Genetics (clinical) Histone Acetyltransferases Inheritance Neurodegenerative Diseases Neurologic Disease Phenotype intellectual disability Muscle Hypotonia transcription Transcription Genetic Association Signal Transduction Adolescent E Box Element Biology Enfermedades genéticas en los niños Young Adult Report medicine Genetic Disorder TAF1 Taf1 Animals Gene Developmental Delay abnormal gait Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] Protein Facies Ginecología & otras especialidades médicas Clinical Feature biology.organism_classification Disease Models, Animal Metabolism E Box Protein Gene Expression Regulation Clinical Assessment Anormalidades de los cromosomas sexuales en niños - Language
- English
- ISSN
- 0002-9297