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Hipertrikozis-gingival hiperplazi sendromu

17q24.2-q24.3 deletion sendromu

Hypertrichosis/gingival hyperplasia

Kalıtsal - AR

Gingival fibromatozis

Aşırı kıllanma (hipertrikoz)

Dermisin derinliklerine inen kalın kıl folikülleri

Kıl folikülleri medüllalı ve pigmentli

Kıl gövdeleri çok uzun

Fenotip: Waterman sendromu

 

• Witkop CJ Jr. Heterogeneity in gingival fibromatosis. Birth Defects Original Article Series, 7: 210-221, 1971Canun S, Guevara-Sangines EG, Elvira-Morales A, et al. Hypertrichosis terminalis, gingival hyperplasia, and a characteristic face: a new distinct entity. American Journal of Medical Genetics, 116A: 278-283, 2003

• Mangino M, Pizzuti A, Dallapiccola B, et al. Hereditary gingival fibromatosis (HGF) with hypertrichosis is unlinked to the HGF1 and HGF2 loci. (Letter) American Journal of Medical Genetics, 116A: 312-314, 2003

• Sun M, Li N, Dong W, et al. Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia. American Journal of Human Genetics, 84: 807-813, 2009

• Fantauzzo KA, Kurban M, Levy B, Christiano AM. Trps1 and its target gene Sox9 regulate epithelial proliferation in the developing hair follicle and are associated with hypertrichosis. PLoS Genetics, 8: e1003002, 2012

• DeStefano GM, Kurban M, Anyane-Yeboa K, et al. Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth. PLoS Genetics, 10: e1004333, 2014

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