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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| Main Authors: | , , , , , , , |
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| Format: | Book |
| Published: |
BMC,
2017-10-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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