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Comment
. 2021 Oct;29(10):1475-1476.
doi: 10.1038/s41431-021-00958-y.

Comment on: Bi-allelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2

Alisdair McNeill  1   2
Affiliations
Comment

Comment on: Bi-allelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2

Alisdair McNeill. Eur J Hum Genet. 2021 Oct.
No abstract available

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Conflict of interest statement

The author declares no competing interests.

Comment on

  • Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2.
    Arteche-López A, Álvarez-Mora MI, Sánchez Calvin MT, Lezana Rosales JM, Palma Milla C, Gómez Rodríguez MJ, Gomez Manjón I, Blázquez A, Juarez Rufián A, Ramos Gómez P, Sierra Tomillo O, Hidalgo Mayoral I, Pérez de la Fuente R, Posada Rodríguez IJ, González Granado LI, Martin MA, Quesada-Espinosa JF, Moreno-García M. Arteche-López A, et al. Eur J Hum Genet. 2021 Oct;29(10):1520-1526. doi: 10.1038/s41431-021-00919-5. Epub 2021 Jul 15. Eur J Hum Genet. 2021. PMID: 34267336 Free PMC article.

References

    1. Arteche-López A, Álvarez-Mora MI, Sánchez Calvin MT, Lezana Rosales JM, Palma Milla C, Gómez Rodríguez MJ, et al. Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2. Eur J Hum Genet. 2021. 10.1038/s41431-021-00919-5. - PMC - PubMed
    1. McNeill A, Iovino E, Mansard L, Vache C, Baux D, Bedoukian E, et al. SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect. Brain. 2020;143:2380–7. doi: 10.1093/brain/awaa176. - DOI - PMC - PubMed
    1. Beck DB, Petracovici A, He C, Moore HW, Louie RJ, Ansar M, et al. Delineation of a human Mendelian disorder of the DNA demethylation machinery: TET3 deficiency. Am J Hum Genet. 2020;106:234–45. doi: 10.1016/j.ajhg.2019.12.007. - DOI - PMC - PubMed
    1. Haag N, Tan EC, Begemann M, Buschmann L, Kraft F, Holschbach P, et al. Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability. Eur J Hum Genet. 2021 doi: 10.1038/s41431-021-00943. - DOI - PMC - PubMed
    1. McNeill A, Duran R, Proukakis C, Bras J, Hughes D, Mehta A, et al. Hyposmia and cognitive impairment in Gaucher disease patients and carriers. Mov Disord. 2012;27:526–32. doi: 10.1002/mds.24945. - DOI - PMC - PubMed

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