| 概要 |
Congenital facial palsy with ptosis and velopharyngeal dysfunction (FPVEPD) is an autosomal dominant disorder caused by mutations in TUBB6, a gene encoding a class V tubulin. Tubulins form microtubules, which are essential for the cytoskeleton and thereby for cell division, differentiation and migration as well as intracellular trafficking.
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| 著者 |
Fazeli W, Herkenrath P, Stiller B, Neugebauer A, Fricke J, Lang-Roth R, Nurnberg G, Thoenes M, Becker J, Altmuller J, Volk AE, Kubisch C, Heller R |
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