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Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genes

Scientific Reports

Jan 24, 2020

Hossein DarvishCoro Paisán-Ruiz

Abstract

Intellectual disability (ID), which presents itself during childhood, belongs to a group of neurodevelopmental disorders (NDDs) that are clinically widely heterogeneous and highly heritable, often being caused by single gene defects. Indeed, NDDs can be attributed to mutations at over 1...read more

Mentioned in this Paper

Sodium-Glucose Transporter 2
DNA Copy Number Variations
Genome
TCL1B protein, human
Diagnosis
Whole Genome Sequencing
Autistic Disorder
Gene Mutation
Genes
Epilepsy
2
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Genomic imbalances defining novel intellectual disability associated loci

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© 2020 Meta ULC. All rights reserved

Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genes

Scientific Reports

Jan 24, 2020

Hossein DarvishCoro Paisán-Ruiz

PMID: 31969655

DOI: 10.1038/s41598-020-57929-4

Abstract

Intellectual disability (ID), which presents itself during childhood, belongs to a group of neurodevelopmental disorders (NDDs) that are clinically widely heterogeneous and highly heritable, often being caused by single gene defects. Indeed, NDDs can be attributed to mutations at over 1...read more

Mentioned in this Paper

Sodium-Glucose Transporter 2
DNA Copy Number Variations
Genome
TCL1B protein, human
Diagnosis
Whole Genome Sequencing
Autistic Disorder
Gene Mutation
Genes
Epilepsy
2

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Epilepsy

Epilepsy is a chronic neurological disorder characterized by unprovoked and recurrent seizures. Discover the latest research on factors and mechanisms that underlie epilepsy here.

SGLT2i: Diabetes & Heart Failure

Sodium-glucose cotransporter 2 inhibitors (SGLT2i) are novel anti-diabetic drugs that lowers blood glucose. This feed focuses on the role of SGLT2i in diabetes and reducing heart failure.

Related Papers

Orphanet Journal of Rare Diseases

Genomic imbalances defining novel intellectual disability associated loci

Orphanet Journal of Rare DiseasesJuly 7, 2019
Fátima LopesPatrícia Maciel
Paper Details
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