TY  - JOUR
AU  - García-Gutiérrez, Pablo
AU  - García-Domínguez, Mario
PY  - 2021
DO  - 10.3389/fmolb.2021.709232
UR  - http://hdl.handle.net/10668/4207
T2  - Frontiers in Molecular Biosciences
AB  - Cornelia de Lange Syndrome (CdLS) is a human developmental syndrome with complex multisystem phenotypic features. It has been traditionally considered a cohesinopathy together with other phenotypically related diseases because of their association...
LA  - en
PB  - Frontiers
KW  - CdLS
KW  - NIPBL
KW  - BRD4
KW  - Transcription
KW  - Transcriptomopathy
KW  - Síndrome de De Lange
KW  - Transcripción genética
KW  - Proteínas
KW  - Mutación
KW  - Expresión génica
KW  - Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
KW  - Medical Subject Headings::Diseases::Nervous System Diseases::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability::De Lange Syndrome
KW  - Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Nuclear Proteins
KW  - Medical Subject Headings::Anatomy::Cells::Cellular Structures::Intracellular Space::Cell Nucleus::Cell Nucleus Structures::Intranuclear Space::Chromosomes::Chromosome Structures::Chromatids
KW  - Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Transcription Factors
KW  - Medical Subject Headings::Anatomy::Cells::Cellular Structures::Intracellular Space::Cell Nucleus::Cell Nucleus Structures::Intranuclear Space::Chromosomes::Chromosome Structures::Chromatin
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Phenotype
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Processes::Gene Expression
TI  - BETting on a Transcriptional Deficit as the Main Cause for Cornelia de Lange Syndrome
TY  - review article
ER  -