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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: ben neriah z. 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
Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.
Bargal R, Cormier-Daire V, Ben-Neriah Z, Le Merrer M, Sosna J, Melki J, Zangen DH, Smithson SF, Borochowitz Z, Belostotsky R, Raas-Rothschild A. Bargal R, et al. Among authors: ben neriah z. Am J Hum Genet. 2009 Jan;84(1):80-4. doi: 10.1016/j.ajhg.2008.12.004. Epub 2008 Dec 24. Am J Hum Genet. 2009. PMID: 19110212 Free PMC article.
55 results