H syndrome: 5 new cases from the United States with novel features and responses to therapy
Abstract
H Syndrome is an autosomal recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, and induration with numerous systemic manifestations. The syndrome is caused by mutations in SLC29A3, a gene located on chromosome 10q23, which encodes the human equilibrative transporter 3 (hENT3). Less than 100 patients with H syndrome have been described in the literature, with the majority being of Arab descent, and only a few from...
Paper Details
Title
H syndrome: 5 new cases from the United States with novel features and responses to therapy
Published Date
Oct 17, 2017
Journal
Volume
15
Issue
1
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