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Yang, C. Bart-Pumphrey Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4928 (accessed on 23 September 2026).
Yang C. Bart-Pumphrey Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4928. Accessed September 23, 2026.
Yang, Catherine. "Bart-Pumphrey Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4928 (accessed September 23, 2026).
Yang, C. (2020, December 24). Bart-Pumphrey Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4928
Yang, Catherine. "Bart-Pumphrey Syndrome." Encyclopedia. Web. 24 December, 2020.
Bart-Pumphrey Syndrome
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/bart-pumphrey-syndrome

Bart-Pumphrey syndrome is characterized by nail and skin abnormalities and hearing loss.

genetic conditions

References

  1. Alexandrino F, Sartorato EL, Marques-de-Faria AP, Steiner CE. G59S mutation inthe GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome. Am J MedGenet A. 2005 Jul 30;136(3):282-4.
  2. Lee JR, White TW. Connexin-26 mutations in deafness and skin disease. ExpertRev Mol Med. 2009 Nov 19;11:e35. doi: 10.1017/S1462399409001276. Review.
  3. Ramer JC, Vasily DB, Ladda RL. Familial leuconychia, knuckle pads, hearingloss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphreysyndrome. J Med Genet. 1994 Jan;31(1):68-71.
  4. Richard G, Brown N, Ishida-Yamamoto A, Krol A. Expanding the phenotypicspectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2. J Invest Dermatol. 2004 Nov;123(5):856-63.
  5. Xu J, Nicholson BJ. The role of connexins in ear and skin physiology -functional insights from disease-associated mutations. Biochim Biophys Acta. 2013Jan;1828(1):167-78. doi: 10.1016/j.bbamem.2012.06.024.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
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Entry Collection: MedlinePlus
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Update Date: 24 Dec 2020
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