Last Updated: 09/26/2026
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Found 8 publications
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Journal: Brain : a journal of neurology
Published: February 14, 2022
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
Journal: American journal of medical genetics. Part A
Published: May 01, 2020
Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.
Journal: Clinical genetics
Published: July 26, 2017
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.
Journal: American journal of human genetics
Published: January 27, 2016
Lysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literature.
Journal: Molecular genetics and metabolism reports
Published: August 13, 2014
Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.
Journal: American journal of human genetics
Published: July 18, 2014
Concomitant achondroplasia and Chiari II malformation: A double-hit at the cervicomedullary junction.
Journal: World journal of clinical cases
Published: April 26, 2014
Ocular and histologic findings in a series of children with infantile pompe disease treated with enzyme replacement therapy.
Journal: Journal of pediatric ophthalmology and strabismus
Published: April 14, 2014
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Last Updated: 09/26/2026