Associated Papers
A Novel Epilepsy Phenotype in a Young Girl With a Pathogenic SETD5 Gene Variant.
Alessi D et al.
Journal of Child Neurology, 2025
Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry.
Callahan NC et al.
Clinical Genetics, 2025
Neurobehavioral characteristics of mice with SETD5 mutations as models of IDD23 and KBG syndromes.
Nakagawa T et al.
Frontiers in Genetics, 2022
36685966 (PubMed )
Supplement: Image1.PDF
Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition.
Deliu E et al.
Nature Neuroscience, 2018
Genetic variations on SETD5 underlying autistic conditions.
Fernandes IR et al.
Developmental Neurobiology, 2018
Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.
Powis Z et al.
Clinical Genetics, 2018
De novo SETD5 loss-of-function variant as a cause for intellectual disability in a 10-year old boy with an aberrant blind ending bronchus.
Green C et al.
American Journal of Medical Genetics. Part A, 2017
SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression.
Szczałuba K et al.
American Journal of Medical Genetics. Part A, 2016
De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.
Grozeva D et al.
American Journal of Human Genetics, 2014
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