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ELSEA, SARAH
One or more keywords matched the following items that are connected to ELSEA, SARAH
Item TypeName
Academic Article Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.
Academic Article Severe intellectual disability and autistic features associated with microduplication 2q23.1.
Academic Article Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
Academic Article Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay.
Concept Developmental Disabilities
Concept Child Development Disorders, Pervasive
Academic Article Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
Academic Article Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.
Academic Article Genetic variation in melatonin pathway enzymes in children with autism spectrum disorder and comorbid sleep onset delay.
Academic Article Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation.
Academic Article Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor.
Academic Article De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Academic Article Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension.
Academic Article Clinical Reasoning: A 12-month-old child with hypotonia and developmental delays.
Academic Article Assessing Prevalence and Carrier Frequency of Succinic Semialdehyde Dehydrogenase Deficiency.
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  • Developmental Disabilities