Associated Papers
Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study.
Zhang R et al.
Bmc Pediatrics, 2024
Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with cutis laxa.
Zhang Y et al.
Molecular Biology Reports, 2024
A novel intronic variant of ATP6V0A2-related cutis laxa with impaired cognitive function.
Xue S et al.
Pediatrics and Neonatology, 2024
Abstracts of ICIEM 2013, the 12th International Congress of Inborn Errors of Metabolism. Barcelona, Spain. September 3-6, 2013.
Unknown Author
Journal of Inherited Metabolic Disease, 2013
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