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Article Abstract
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11000750 | PMC |
| http://dx.doi.org/10.1038/s41436-020-0760-2 | DOI Listing |
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Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).
Eur J Med Genet
October 2020
Normandie Univ, UNIROUEN, Inserm U1245, Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, F76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France. Electronic address:
De novo pathogenic variants in the GATAD2B gene have been associated with a syndromic neurodevelopmental disorder (GAND) characterized by severe intellectual disability (ID), impaired speech, childhood hypotonia, and dysmorphic features. Since its first description in 2013, nine patients have been reported in case reports and a series of 50 patients was recently published, which is consistent with the relative frequency of GATAD2B pathogenic variants in public databases. We report the detailed phenotype of 19 patients from various ethnic backgrounds with confirmed pathogenic GATAD2B variants including intragenic deletions.
View Article and Find Full Text PDFCorrection: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Genet Med
April 2020
Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Article Synopsis
- An amendment to the original paper has been released.
- The amendment can be accessed through a link located at the top of the paper.
- Readers are encouraged to check the link for updated information.