| 概要 |
TIMES syndrome is a novel multisystem disorder characterized by telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature. It has been reported that mutations in LRRC8C cause this disease. LRRC8C encodes a subunit of the volume-regulated anion channels (VRACs), key players in regulatory volume decrease of vertebrate cells by mediating the extrusion of chloride and organic osmolytes.
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| 著者 |
Quinodoz M, Rutz S, Peter V, Garavelli L, Innes AM, Lehmann EF, Kellenberger S, Peng Z, Barone A, Campos-Xavier B, Unger S, Rivolta C, Dutzler R, Superti-Furga A |
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