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Comment
. 2020 Dec 3;107(6):1186-1187.
doi: 10.1016/j.ajhg.2020.10.014.

Using the Term Amyoplasia Loosely Can Lead to Confusion

Judith G Hall  1
Affiliations
Comment

Using the Term Amyoplasia Loosely Can Lead to Confusion

Judith G Hall. Am J Hum Genet. .
No abstract available

PubMed Disclaimer

Conflict of interest statement

The author declares no competing interests.

Comment in

  • Response to Hall et al.
    Chong JX, Talbot JC, Teets EM, Previs S, Martin BL, Shively KM, Marvin CT, Aylsworth AS, Saadeh-Haddad R, Schatz UA, Inzana F, Ben-Omran T, Almusafri F, Al-Mulla M, Buckingham KJ, Harel T, Mor-Shaked H, Radhakrishnan P, Girisha KM, Nayak SS, Shukla A, Dieterich K, Faure J, Rendu J, Capri Y, Latypova X, Nickerson DA, Warshaw D, Janssen PM; University of Washington Center for Mendelian Genomics; Amacher SL, Bamshad MJ. Chong JX, et al. Am J Hum Genet. 2020 Dec 3;107(6):1188-1189. doi: 10.1016/j.ajhg.2020.11.006. Am J Hum Genet. 2020. PMID: 33275912 Free PMC article. No abstract available.

Comment on

  • Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.
    Chong JX, Talbot JC, Teets EM, Previs S, Martin BL, Shively KM, Marvin CT, Aylsworth AS, Saadeh-Haddad R, Schatz UA, Inzana F, Ben-Omran T, Almusafri F, Al-Mulla M, Buckingham KJ, Harel T, Mor-Shaked H, Radhakrishnan P, Girisha KM, Nayak SS, Shukla A, Dieterich K, Faure J, Rendu J, Capri Y, Latypova X, Nickerson DA, Warshaw DM, Janssen PML; University of Washington Center for Mendelian Genomics; Amacher SL, Bamshad MJ. Chong JX, et al. Am J Hum Genet. 2020 Aug 6;107(2):293-310. doi: 10.1016/j.ajhg.2020.06.014. Epub 2020 Jul 23. Am J Hum Genet. 2020. PMID: 32707087 Free PMC article.

References

    1. Chong J.X., Talbot J.C., Teets E.M., Previs S., Martin B.L., Shively K.M., Marvin C.T., Aylsworth A.S., Saadeh-Haddad R., Schatz U.A., University of Washington Center for Mendelian Genomics Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis. Am. J. Hum. Genet. 2020;107:293–310. - PMC - PubMed
    1. Hall J.G., Reed S.D., Driscoll E.P. Part I. Amyoplasia: a common, sporadic condition with congenital contractures. Am. J. Med. Genet. 1983;15:571–590. - PubMed
    1. Hall J.G., Aldinger K.A., Tanaka K.I. Amyoplasia revisited. Am. J. Med. Genet. A. 2014;164:700–730. - PubMed
    1. Kiefer J., Hall J.G. Gene ontology analysis of arthrogryposis (multiple congenital contractures) Am. J. Med. Genet. C. Semin. Med. Genet. 2019;181:310–326. 310–326. - PubMed
    1. Hall J.G. Don’t use the term “amyoplasia” loosely. Am. J. Med. Genet. 2002;111:344. - PubMed

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