1. Awake PP, Penmetcha LC, Fonseca A, Jawalkar PP. A tale of H Syndrome with typical radiographic findings. Indian J Dermatol. 2018;63(02):172–175
2. Molho-Pessach V, Agha Z, Aamar S, et al. The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations. JAm Acad Dermatol. 2008;59(01):79–85
3. Molho-Pessach V, Lerer I, Abeliovich D, et al. The H syndrome is caused by mutations in the nucleoside transporter hENT3. Am J Hum Genet 2008;83(04):529–534
4. Molho-Pessach V, Ramot Y, Camille F, et al. H syndrome: the first 79 patients. J Am Acad Dermatol. 2014;70(01):80–8.
5. Bloom JL, Lin C, Imundo L, et al. H syndrome: 5 new cases from the United States with novel features and responses to therapy. Pediatr Rheumatol Online J. 2017;15(01):76
6. Farooq M, Moustafa RM, Fujimoto A, et al. Identification of Two Novel Mutations in SLC29A3 Encoding an Equilibrative Nucleoside Transporter (hENT3) in Two Distinct Syrian Families with H Syndrome: Expression Studies of SLC29A3 (hENT3) in Human Skin. Dermatology. 2012; 224:277–284
7. Molho-Pessach V, Suarez J, Perrin C, et al. The H syndrome: Two novel mutations affecting the same amino acid residue of hENT3. J Dermatol Sci. 2010;57(1):59-61.
8. Kang N, Jun AH, Bhutia YD, Kannan N, Unadkat JD, Govindarajan R. Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability. J Biol Chem. 2010;285(36):28343-52.
9. Alansari S, Alsaleem A, Alzaid T, et al. The SLC29A3 variant, neutrophilic dermatosis, and hyperferritinemia imitate systemic juvenile idiopathic arthritis in a Saudi child: a case report. J Rheum Dis. 2023 Apr 1;30(2):133-7.
10. Senniappan S, Hughes M, Shah P, Shah V, Kaski JP, Brogan P, et al. 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. J Pediatr Endocrinol Metab. 2013;26(9–10): 877–82. https://doi.org/10.1515/jpem-2013-0062.
11. Jaouadi H, Zaouak A, Sellami K, Messaoud O, Chargui M, Hammami H, et al. H syndrome: clinical, histological and genetic investigation in Tunisian patients. J Dermatol. 2018;45(8):978–85.