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Page 1
Bart-Pumphrey Syndrome.
Al-Hamdi KI, Qais Saadoon A, Abduljabbar NH. Al-Hamdi KI, et al. JAMA Dermatol. 2020 Oct 1;156(10):1126. doi: 10.1001/jamadermatol.2020.2555. JAMA Dermatol. 2020. PMID: 32745176 No abstract available.
A family of Bart-Pumphrey syndrome.
Gönül M, Gül Ü, Hizli P, Hizli Ö. Gönül M, et al. Indian J Dermatol Venereol Leprol. 2012 Mar-Apr;78(2):178-81. doi: 10.4103/0378-6323.93636. Indian J Dermatol Venereol Leprol. 2012. PMID: 22421650 Free article.
Bart-Pumphrey syndrome (BPS) is an autosomal-dominant disorder characterized by hearing loss, leukonychia, knuckle pads and palmoplantar keratoderma. ...
Bart-Pumphrey syndrome (BPS) is an autosomal-dominant disorder characterized by hearing loss, leukonychia, knuckle pads
Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.
Richard G, Brown N, Ishida-Yamamoto A, Krol A. Richard G, et al. J Invest Dermatol. 2004 Nov;123(5):856-63. doi: 10.1111/j.0022-202X.2004.23470.x. J Invest Dermatol. 2004. PMID: 15482471 Free article.
Bart-Pumphrey syndrome (BPS) is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, which show considerable phenotypic variability. ...
Bart-Pumphrey syndrome (BPS) is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplanta
Overview of skin diseases linked to connexin gene mutations.
Avshalumova L, Fabrikant J, Koriakos A. Avshalumova L, et al. Int J Dermatol. 2014 Feb;53(2):192-205. doi: 10.1111/ijd.12062. Epub 2013 May 15. Int J Dermatol. 2014. PMID: 23675785 Review.
Mutations in connexin 26 are linked to diseases including Vohwinkel syndrome, keratitis-ichthyosis deafness, and hystrix-like ichthyosis deafness syndromes, palmoplantar keratoderma with deafness, deafness with Clouston-like phenotype, and Bart-Pumphrey syndrome
Mutations in connexin 26 are linked to diseases including Vohwinkel syndrome, keratitis-ichthyosis deafness, and hystrix-like ichthyosis dea …
A family with leukonychia totalis.
Balighi K, Moeineddin F, Lajevardi V, Ahmadreza R. Balighi K, et al. Indian J Dermatol. 2010;55(1):102-4. doi: 10.4103/0019-5154.60365. Indian J Dermatol. 2010. PMID: 20418990 Free PMC article.
Physical examination revealed clinical feature of leukonychia totalis and the presence of sensorineural hearing loss, palmo plantar keratoderma and knuckle pads (four essential criteria for the diagnosis of Bart Pumphrey syndrome).Three consecutive generation …
Physical examination revealed clinical feature of leukonychia totalis and the presence of sensorineural hearing loss, palmo plantar keratode …
Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome.
Ramer JC, Vasily DB, Ladda RL. Ramer JC, et al. J Med Genet. 1994 Jan;31(1):68-71. doi: 10.1136/jmg.31.1.68. J Med Genet. 1994. PMID: 8151643 Free PMC article.
The findings in these subjects are compared with those noted in previously reported patients with Bart-Pumphrey syndrome. The range of disorders which include knuckle pads as part of the phenotype is reviewed....
The findings in these subjects are compared with those noted in previously reported patients with Bart-Pumphrey syndrome
[Leukonychia totalis].
Wagner G, Meyer V, Sachse MM. Wagner G, et al. Hautarzt. 2016 Apr;67(4):308-10. doi: 10.1007/s00105-015-3736-4. Hautarzt. 2016. PMID: 26676417 German.
19 results