Expanding the phenotype associated with biallelic SLC20A2 variants

Eur J Hum Genet. 2023 Jul;31(7):725-729. doi: 10.1038/s41431-023-01349-1. Epub 2023 Mar 28.

Gianluca D'Onofrio^#^{1

2}, Marcello Scala^#^{3

4

5}, Mariasavina Severino⁶, Roberta Roberti⁷, Ferruccio Romano⁸, Patrizia De Marco⁸, Michele Iacomino⁸, Simona Baldassari⁸, Paolo Uva⁹, Marco Pavanello¹⁰, Stefano Gustincich¹¹, Pasquale Striano^{1

2}, Federico Zara⁸, Valeria Capra¹²

¹ Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.
² Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy.
³ Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy. mscala.md@gmail.com.
⁴ Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy. mscala.md@gmail.com.
⁵ Unit of Medical Genetics, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy. mscala.md@gmail.com.
⁶ Neuroradiology Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy.
⁷ Science of Health Department, School of Medicine, Magna Græcia University, 88100, Catanzaro, Italy.
⁸ Unit of Medical Genetics, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy.
⁹ Clinical Bioinformatics Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy.
¹⁰ Department of Neurosurgery, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy.
¹¹ Department of Neuroscience and Brain Technologies, Istituto Italiano di Tecnologia, 16163, Genoa, Italy.
¹² Unit of Medical Genetics, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy. valeriacapra@gaslini.org.

^# Contributed equally.

No abstract available

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