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Comment
. 2021 Oct;23(10):2003-2004.
doi: 10.1038/s41436-021-01208-8. Epub 2021 Jun 2.

Correspondence on "De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females" by Polla et al

Florence Riccardi  1   2 , Alexandre Astier  1 , Margot Grisval  3 , Arnaud Maillard  4 , Vincent Michaud  5   6 , Catherine Badens  2   7 , Christopher T Gordon  8 , Aurélien Trimouille  5   6 , Laurence Faivre  3   9 , Jeanne Amiel  4   8 , Sabine Sigaudy  1   2 , Svetlana Gorokhova  10   11
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Free article
Comment

Correspondence on "De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females" by Polla et al

Florence Riccardi et al. Genet Med. 2021 Oct.
Free article
No abstract available

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Comment in

  • Response to Riccardi et al.
    de Brouwer APM. de Brouwer APM. Genet Med. 2021 Oct;23(10):2005. doi: 10.1038/s41436-021-01209-7. Epub 2021 Jun 2. Genet Med. 2021. PMID: 34079075 No abstract available.

Comment on

  • De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.
    Polla DL, Bhoj EJ, Verheij JBGM, Wassink-Ruiter JSK, Reis A, Deshpande C, Gregor A, Hill-Karfe K, Silfhout ATV, Pfundt R, Bongers EMHF, Hakonarson H, Berland S, Gradek G, Banka S, Chandler K, Gompertz L, Huffels SC, Stumpel CTRM, Wennekes R, Stegmann APA, Reardon W, Leenders EKSM, de Vries BBA, Li D, Zackai E, Ragge N, Lynch SA, Cuddapah S, van Bokhoven H, Zweier C, de Brouwer APM. Polla DL, et al. Genet Med. 2021 Apr;23(4):645-652. doi: 10.1038/s41436-020-01040-6. Epub 2020 Nov 27. Genet Med. 2021. PMID: 33244165

References

    1. Polla, D. L. et al. De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females. Genet. Med. https://doi.org/10.1038/s41436-020-01040-6 (2020). - DOI - PubMed
    1. Fieremans, N. et al. Identification of intellectual disability genes in female patients with a skewed X-inactivation pattern. Hum. Mutat. 37, 804–811 (2016). - DOI
    1. Li, D. et al. De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females. Genet. Med. https://doi.org/10.1038/s41436-020-01031-7 (2020).
    1. Charzewska, A. et al. The power of the mediator complex—expanding the genetic architecture and phenotypic spectrum of MED12-related disorders. Clin. Genet. 94, 450–456 (2018). - DOI

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