Expanding the phenotype associated with biallelic SLC20A2 variants-Reference-Cited by-同舟云学术

Expanding the phenotype associated with biallelic SLC20A2 variants

Published:2023-03-28 Issue:7 Volume:31 Page:725-729
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

D’Onofrio Gianluca,Scala Marcello^ORCID,Severino Mariasavina,Roberti Roberta,Romano Ferruccio,De Marco Patrizia,Iacomino Michele,Baldassari Simona,Uva Paolo,Pavanello Marco,Gustincich Stefano,Striano Pasquale^ORCID,Zara Federico,Capra Valeria

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-023-01349-1.pdf

Reference10 articles.

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2. de Oliveira DF, de Lemos RR, de Oliveira JR. Mutations at the SLC20A2 gene and brain resilience in families with idiopathic basal ganglia calcification (“Fahr’s disease”). Front Hum Neurosci. 2013;7:420. https://doi.org/10.3389/fnhum.2013.00420.

3. Arteche-López A, Álvarez-Mora MI, Sánchez Calvin MT, Lezana Rosales JM, Palma Milla C, Gómez, et al. Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2. Eur J Hum Genet. 2021;29:1520–6. https://doi.org/10.1038/s41431-021-00919-5.

4. Ceylan AC, Kireker Köylü O, Özyürek H, Özaydin E, Yön Mİ, Kasapkara ÇS. Homozygous SLC20A2 mutations cause congenital CMV infection-like phenotype. Acta Neurol Belg. 2022. https://doi.org/10.1007/s13760-022-02044-6.

5. Balck A, Schaake S, Kuhnke NS, Domingo A, Madoev H, Margolesky J, et al. Genotype-Phenotype Relations in Primary Familial Brain Calcification: Systematic MDSGene Review. Mov Disord. 2021;36:2468–80. https://doi.org/10.1002/mds.28753.