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Article

Genetic Variants in the TBC1D2B Gene Are Associated with Ramon Syndrome and Hereditary Gingival Fibromatosis.

International journal of molecular sciences - 15 Aug 2024

Kularbkaew Thatphicha, Thongmak Tipaporn, Sandeth Phan, Durward Callum S, Vittayakittipong Pichai, Duke Paul, Iamaroon Anak, Kintarak Sompid, Intachai Worrachet, Ngamphiw Chumpol, Tongsima Sissades, Jatooratthawichot Peeranat, Cox Timothy C, Ketudat Cairns James R, Kantaputra Piranit

Abstract excerpt

Ramon syndrome (MIM 266270) is an extremely rare genetic syndrome, characterized by gingival fibromatosis, cherubism-like lesions, epilepsy, intellectual disability, hypertrichosis, short stature, juvenile rheumatoid arthritis, and ocular abnormalities. Hereditary or non-syndromic gingival fibromatosis (HGF) is also rare and considered to represent a heterogeneous group of disorders characterized by benign,...

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PMID: 39201553
DOI: 10.3390/ijms25168867
PMCID: PMC11354241

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