fibrodysplasia ossificans progressiva
原始詞典資料1 筆記錄
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fibrodysplasia ossificans progressivanoun/ˌfaɪbɹəʊdɪsˈpleɪzɪə ɒˈsɪfɪkɑːnz pɹəˈɡɹɛsɪvə/
- 1
A very rare, disabling genetic disorder of the connective tissue in which fibrous tissue (including ligaments, muscles, and tendons) ossifies (“transforms into bone”) when damaged.
- The cardinal manifestations of fibrodysplasia ossificans progressiva are microdactyly and progressive ossification of fascia, [aponeuroses], and other fibrous structures related to muscles.
- Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder of skeletal malformations and progressive extraskeletal ossification. We mapped FOP to chromosome 2q23-24 by linkage analysis and identified an identical heterozygous mutation (617G → A; R206H) in the glycine-serine (GS) activation domain of ACVR1, a BMP type I receptor, in all affected individuals examined.
資料來源：英文維基詞典 English Wiktionary（CC BY-SA 4.0）。 原文照列，未經改寫。