Expanding the phenotype associated with biallelic SLC20A2 variants.
作者信息
D'Onofrio Gianluca, Scala Marcello, Severino Mariasavina, Roberti Roberta, Romano Ferruccio, De Marco Patrizia, Iacomino Michele, Baldassari Simona, Uva Paolo, Pavanello Marco, Gustincich Stefano, Striano Pasquale, Zara Federico, Capra Valeria
机构信息
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.
Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy.
出版信息
Eur J Hum Genet. 2023 Jul;31(7):725-729. doi: 10.1038/s41431-023-01349-1. Epub 2023 Mar 28.
Abstract
摘要
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