H syndrome with a novel homozygous <scp>R</scp>134<scp>C</scp> mutation in <i><scp>SLC</scp>29<scp>A</scp>3</i> gene

The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3

Vered Molho‐Pessach, Dvorah Abeliovich, Ziad Agha et al. · The American Journal of Human Genetics · 2008 · 205 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway

Simon T. Cliffe, Jamie M. Kramer, Khalid Hussain et al. · Human Molecular Genetics · 2009 · 118 citations

Life Sciences, Genetics, Molecular Genetics +17

H Syndrome: Recently Defined Genodermatosis With Distinct Histologic Features. A Morphological, Histochemical, Immunohistochemical, and Ultrastructural Study of 10 Cases

Victoria Doviner, Alexander Maly, Zvi Neʼeman et al. · American Journal of Dermatopathology · 2010 · 48 citations

Medicine, Dermatology, Pathology +17

A Case of H Syndrome Showing Immunophenotye Similarities to Rosai–Dorfman Disease

Emily Avitan‐Hersh, Hanna Mandel, Margarita Indelman et al. · American Journal of Dermatopathology · 2010 · 45 citations

Medicine, Dermatology, Pathology +13

H syndrome: novel and recurrent mutations in <i>SLC29A3</i>

Tannu Priya, N. Philip, Vered Molho‐Pessach et al. · British Journal of Dermatology · 2010 · 38 citations

Life Sciences, Dermatology, Genetics +14