H syndrome: 5 new cases from the United States with novel features and responses to therapy

• Main Authors: Jessica L. Bloom (Author), Clara Lin (Author), Lisa Imundo (Author), Stephen Guthery (Author), Shelly Stepenaskie (Author), Csaba Galambos (Author), Amy Lowichik (Author), John F. Bohnsack (Author)
• Format: Book
• Published: BMC, 2017-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background 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 equilibrat...