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Early-onset sensorineural hearing loss is a prominent feature of H syndrome.
Ramot Y, Sayama K, Sheffer R, Doviner V, Hiller N, Kaufmann-Yehezkely M, Zlotogorski A. Ramot Y, et al. Among authors: zlotogorski a. Int J Pediatr Otorhinolaryngol. 2010 Jul;74(7):825-7. doi: 10.1016/j.ijporl.2010.03.053. Int J Pediatr Otorhinolaryngol. 2010. PMID: 20399510
The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations.
Molho-Pessach V, Agha Z, Aamar S, Glaser B, Doviner V, Hiller N, Zangen DH, Raas-Rothschild A, Ben-Neriah Z, Shweiki S, Elpeleg O, Zlotogorski A. Molho-Pessach V, et al. Among authors: zlotogorski a. J Am Acad Dermatol. 2008 Jul;59(1):79-85. doi: 10.1016/j.jaad.2008.03.021. Epub 2008 Apr 14. J Am Acad Dermatol. 2008. PMID: 18410979
The H syndrome is caused by mutations in the nucleoside transporter hENT3.
Molho-Pessach V, Lerer I, Abeliovich D, Agha Z, Abu Libdeh A, Broshtilova V, Elpeleg O, Zlotogorski A. Molho-Pessach V, et al. Among authors: zlotogorski a. Am J Hum Genet. 2008 Oct;83(4):529-34. doi: 10.1016/j.ajhg.2008.09.013. Am J Hum Genet. 2008. PMID: 18940313 Free PMC article.
Endocrine controls of keratin expression.
Ramot Y, Paus R, Tiede S, Zlotogorski A. Ramot Y, et al. Among authors: zlotogorski a. Bioessays. 2009 Apr;31(4):389-99. doi: 10.1002/bies.200800121. Bioessays. 2009. PMID: 19274655 Review.
The H syndrome: two novel mutations affecting the same amino acid residue of hENT3.
Molho-Pessach V, Suarez J, Perrin C, Chiaverini C, Doviner V, Tristan-Clavijo E, Colmenero I, Giuliano F, Torrelo A, Zlotogorski A. Molho-Pessach V, et al. Among authors: zlotogorski a. J Dermatol Sci. 2010 Jan;57(1):59-61. doi: 10.1016/j.jdermsci.2009.09.011. Epub 2009 Nov 3. J Dermatol Sci. 2010. PMID: 19889517 No abstract available.
213 results