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Oculofaciocardiodental syndrome : ウィキペディア英語版 | Oculofaciocardiodental syndrome Oculofaciocardiodental syndrome is a rare X linked genetic disorder.〔Surapornsawasd T, Ogawa T, Tsuji M, Moriyama K (2014) Oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells. J Hum Genet doi: 10.1038/jhg.2014.24〕 ==Genetics==
This condition is caused by lesions in the BCOR gene located on the short arm of the X chromosome (Xp11.4). This protein encodes the BCL6 corepressor but little is currently known about its function. The inheritance is X-linked dominant.
抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)』 ■ウィキペディアで「Oculofaciocardiodental syndrome」の詳細全文を読む
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