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

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

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...

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Bibliographic Details
Main Authors: Jessica L. Bloom, Clara Lin, Lisa Imundo, Stephen Guthery, Shelly Stepenaskie, Csaba Galambos, Amy Lowichik, John F. Bohnsack
Format: Article
Language:English
Published: BMC 2017-10-01
Series:Pediatric Rheumatology Online Journal
Subjects:
H syndrome
SLC29A3
Autoinflammatory
Arthritis
Hyperpigmentation
Pediatric rheumatology
Online Access:http://link.springer.com/article/10.1186/s12969-017-0204-y

Internet

http://link.springer.com/article/10.1186/s12969-017-0204-y

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