H syndrome with possible new phenotypes
Author:
Publisher
Elsevier BV
Subject
Dermatology
Reference10 articles.
1. The H syndrome is caused by mutations in the nucleoside transporter hENT3;Molho-Pessach;Am J Hum Genet,2008
2. The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations;Molho-Pessach;J Am Acad Dermatol,2008
3. Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) syndrome is associated with severe chronic inflammation and cardiomyopathy, and represents a new monogenic autoinflammatory syndrome;Senniappan;J Pediatr Endocrinol Metab,2013
4. Ophthalmologic findings in H syndrome: a unique diagnostic clue;Molho-Pessach;Ophthalmic Genet,2015
5. H syndrome: the first 79 patients;Molho-Pessach;J Am Acad Dermatol,2014
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1. Hyperglycemia with hypogonadism and growth hormone deficiency in a 17-year-old male with H syndrome: the first case report from Syria;BMC Endocrine Disorders;2023-12-14
2. Hyperglycemia with hypogonadism and growth hormone deficiency in a 17-year-old male with H Syndrome: The first case report from Syria;2023-09-25
3. A case report of H‐syndrome from Baghdad Medical City treated with tocilizumab;Clinical Case Reports;2022-12
4. Unusual facial lesions in H syndrome;Clinical Case Reports;2022-07
5. Phenotypic intrafamilial variability including H syndrome and Rosai–Dorfman disease associated with the same c.1088G > A mutation in the SLC29A3 gene;Human Genomics;2021-10-17
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