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Comment
. 2022 Mar;30(3):258-259.
doi: 10.1038/s41431-021-01007-4. Epub 2021 Nov 29.

Commentary on: Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON

Elizabeth Emma Palmer  1   2
Affiliations
Comment

Commentary on: Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON

Elizabeth Emma Palmer. Eur J Hum Genet. 2022 Mar.
No abstract available

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Conflict of interest statement

The author declares no competing interests.

Comment on

  • Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.
    Dingemans AJM, Truijen KMG, Kim JH, Alaçam Z, Faivre L, Collins KM, Gerkes EH, van Haelst M, van de Laar IMBH, Lindstrom K, Nizon M, Pauling J, Heropolitańska-Pliszka E, Plomp AS, Racine C, Sachdev R, Sinnema M, Skranes J, Veenstra-Knol HE, Verberne EA, Vulto-van Silfhout AT, Wilsterman MEF, Ahn EE, de Vries BBA, Vissers LELM. Dingemans AJM, et al. Eur J Hum Genet. 2022 Mar;30(3):271-281. doi: 10.1038/s41431-021-00960-4. Epub 2021 Sep 15. Eur J Hum Genet. 2022. PMID: 34521999 Free PMC article.

References

    1. Srivastava S, Love-Nichols JA, Dies KA, Ledbetter DH, Martin CL, Chung WK, et al. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med. 2019;21:2413–21. doi: 10.1038/s41436-019-0554-6. - DOI - PMC - PubMed
    1. Kochinke K, Zweier C, Nijhof B, Fenckova M, Cizek P, Honti F, et al. Systematic phenomics analysis deconvolutes genes mutated in intellectual disability into biologically coherent modules. Am J Hum Genet. 2016;98:149–64. doi: 10.1016/j.ajhg.2015.11.024. - DOI - PMC - PubMed
    1. Hennekam RC. Care for patients with ultra-rare disorders. Eur J Med Genet. 2011;54:220–4. doi: 10.1016/j.ejmg.2010.12.001. - DOI - PubMed
    1. Dingemans AJM, Truijen KMG, Kim JH, Alaçam Z, Faivre L, Collins KM, et al. Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON. Eur J Hum Genet. 2021. 10.1038/s41431-021-00960-4. - PMC - PubMed
    1. Tokita MJ, Braxton AA, Shao Y, Lewis AM, Vincent M, Küry S, et al. De novo truncating variants in son cause intellectual disability, congenital malformations, and failure to thrive. Am J Hum Genet. 2016;99:720–7. doi: 10.1016/j.ajhg.2016.06.035. - DOI - PMC - PubMed

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