Article
H syndrome: A histiocytosis-lymphadenopathy plus syndrome. A comprehensive review of the literature.
Hematology/oncology and stem cell therapy - 1 Jan 2000
Hamad Alaa, Elwaheidi Hadeel, Salameh Farah, Alyahya Mossaed, El Fakih Riad, Aljurf Mahmoud
Abstract excerpt
H syndrome is a rare autosomal recessive genodermatosis that falls under the histiocytosis-lymphadenopathy plus syndrome. The term "H syndrome" includes manifestations such as hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally hyperglycemia. The syndrome is associated with mutations in the SLC29A3 gene, which encodes the human...
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