H syndrome: The first 79 patients
Author:
Publisher
Elsevier BV
Subject
Dermatology
Reference44 articles.
1. The H syndrome: a new genodermatosis characterized by indurated, hyperpigmented and hypertrichotic skin with systemic manifestations;Molho-Pessach;J Am Acad Dermatol,2008
2. The H syndrome is caused by mutations in the nucleoside transporter hENT3;Molho-Pessach;Am J Hum Genet,2008
3. H syndrome: recently defined genodermatosis with distinct histologic features; a morphologic, histochemical, immunohistochemical and ultrastructural study of ten cases;Doviner;Am J Dermatopathol,2010
4. Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability;Kang;J Biol Chem,2010
5. The SLC29A3 gene is mutated in pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway;Cliffe;Hum Mol Genet,2009
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