Cited by

• Further Evidence of a Continuum in the Clinical Spectrum of Dominant PIEZO2-Related Disorders and Implications in Cerebellar Anomalies.

  Abdel-Salam GMH, Afifi HH, Saleem SN, Gadelhak MI, El-Serafy MA, Sayed ISM, Abdel-Hamid MS. Abdel-Salam GMH, et al. Mol Syndromol. 2022 Dec;13(5):389-396. doi: 10.1159/000523956. Epub 2022 Apr 27. Mol Syndromol. 2022. PMID: 36588752 Free PMC article.
• Male fertility and skin diseases.

  Abdel-Naser MB, Zouboulis CC. Abdel-Naser MB, et al. Rev Endocr Metab Disord. 2016 Sep;17(3):353-365. doi: 10.1007/s11154-016-9368-x. Rev Endocr Metab Disord. 2016. PMID: 27342409 Review.
• Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

  McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM Jr, Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IP, Leroy JG, Mowat D, Plant GT, Robertson SP, Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel SG, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics; Bamshad MJ. McMillin MJ, et al. Am J Hum Genet. 2014 May 1;94(5):734-44. doi: 10.1016/j.ajhg.2014.03.015. Epub 2014 Apr 10. Am J Hum Genet. 2014. PMID: 24726473 Free PMC article.
• A new camptodactyly syndrome.

  Baraitser M. Baraitser M. J Med Genet. 1982 Feb;19(1):40-3. doi: 10.1136/jmg.19.1.40. J Med Genet. 1982. PMID: 7069745 Free PMC article.
• Camptodactyly: occurrence in two new genetic syndromes and its relationship to other syndromes.

  Goodman RM, Katznelson MB, Manor E. Goodman RM, et al. J Med Genet. 1972 Jun;9(2):203-12. doi: 10.1136/jmg.9.2.203. J Med Genet. 1972. PMID: 5046631 Free PMC article. No abstract available.