Cargando…
GNB5 mutation causes a novel neuropsychiatric disorder featuring attention deficit hyperactivity disorder, severely impaired language development and normal cognition
BACKGROUND: Neuropsychiatric disorders are common forms of disability in humans. Despite recent progress in deciphering the genetics of these disorders, their phenotypic complexity continues to be a major challenge. Mendelian neuropsychiatric disorders are rare but their study has the potential to u...
Autores principales: | Shamseldin, Hanan E., Masuho, Ikuo, Alenizi, Ahmed, Alyamani, Suad, Patil, Dipak N., Ibrahim, Niema, Martemyanov, Kirill A., Alkuraya, Fowzan S. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5037613/ https://www.ncbi.nlm.nih.gov/pubmed/27677260 http://dx.doi.org/10.1186/s13059-016-1061-6 |
Ejemplares similares
-
Haploinsufficiency as a disease mechanism in GNB1‐associated neurodevelopmental disorder
por: Schultz‐Rogers, Laura, et al.
Publicado: (2020) -
Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes
por: Shao, Zhuo, et al.
Publicado: (2021) -
Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing
por: Shamseldin, Hanan E., et al.
Publicado: (2013) -
Gαo is a major determinant of cAMP signaling in the pathophysiology of movement disorders
por: Muntean, Brian S., et al.
Publicado: (2021) -
Executive Dysfunctions: The Role in Attention Deficit Hyperactivity and Post-traumatic Stress Neuropsychiatric Disorders
por: Martínez, Lía, et al.
Publicado: (2016)