Existencias: TAF1 Variants are associated with dysmorphic features, intellectual disability, and neurological manifestations

TAF1 Variants are associated with dysmorphic features, intellectual disability, and neurological manifestations

We describe an X-linked genetic syndrome associated with mutations in TAF1 and manifesting with global developmental delay, intellectual disability (ID), characteristic facial dysmorphology, generalized hypotonia, and variable neurologic features, all in male individuals. Simultaneous studies using...

Descripción completa

Detalles Bibliográficos
Autores Principales:	O’Rawe, Jason A., Wu, Yiyang, Dörfel, Max J., Rope, Alan F., Billie Au, P.Y., Parboosingh, Jillian S., Moon, Sungjin, Kousi, Maria, Kosma, Konstantina, Smith, Christopher S., Tzeti, Maria, Schuette, Jane L., Hufnagel, Robert B., Prada, Carlos E., Martinez, Francisco, Orellana, Carmen, Crain, Jonathan, Caro-Llopis, Alfonso, Oltra, Silvestre, Monfort, Sandra, Jiménez-Barrón, Laura T., Swensen, Jeffrey, Ellingwood, Sara, Smith, Rosemarie, Fang, Han, Ospina, Sandra, Stegmann, Sander, Den Hollander, Nicolette, Mittelman, David, Highnam, Gareth, Robison, Reid, Yang, Edward, Faivre, Laurence, Roubertie, Agathe, Rivière, Jean-Baptiste, Monaghan, Kristin G., Wang, Kai, Davis, Erica E., Katsanis, Nicholas, Kalscheuer, Vera M., Wang, Edith H., Metcalfe, Kay, Kleefstra, Tjitske, Innes, A. Micheil, Kitsiou-Tzeli, Sophia, Rosello, Monica, Keegan, Catherine E., Lyon, Gholson J.
Formato:	Artículo (Article)
Lenguaje:	Inglés (English)
Publicado:	2015
Materias:	Abnormal Gait Developmental Delay Dystonia Facial Dysmorphology Intellectual Disability Intergluteal Crease Neurologic Features Taf1 Transcription Ginecología & otras especialidades médicas Enfermedades genéticas en los niños Anormalidades de los cromosomas sexuales en niños E Box Protein Protein Tata Binding Protein Associated Factor Transcription Factor Unclassified Drug Histone Acetyltransferase Tata-Binding Protein Associated Factor 25 Kda Transcription Factor Iid Adolescent Article Child Clinical Article Clinical Assessment Clinical Evaluation Clinical Feature Developmental Disorder Down Regulation Face Dysmorphia Family Assessment Gene Duplication Gene Mutation Genetic Association Genetic Disorder Genetic Screening Human Intellectual Impairment Male Muscle Hypotonia Nerve Degeneration Neurologic Disease Phenotypic Variation Preschool Child Priority Journal Recessive Inheritance Rna Sequence School Child Single Nucleotide Polymorphism Zebra Fish Animal Degenerative Disease Disease Model E Box Element Facies Family Gene Expression Regulation Genetics Infant Inheritance Metabolism Mutation Pathology Pedigree Phenotype Signal Transduction Young Adult Animals Child, Preschool Developmental Disabilities Disease Models, Animal E-Box Elements Histone Acetyltransferases Humans Inheritance Patterns Neurodegenerative Diseases Tata-Binding Protein Associated Factors Transcription Factor Tfiid Zebrafish
Acceso en línea:	http://repository.urosario.edu.co/handle/10336/19015

Internet

http://repository.urosario.edu.co/handle/10336/19015

TAF1 Variants are associated with dysmorphic features, intellectual disability, and neurological manifestations

Internet

Ejemplares similares