翻訳と辞書
Words near each other
・ Oculariini
・ Ocularis Infernum
・ Ocularist
・ Oculesics
・ Oculeus
・ Oculina
・ Oculina diffusa
・ Oculinidae
・ Oculo-respiratory syndrome
・ Oculocardiac reflex
・ Oculocerebrocutaneous syndrome
・ Oculocerebrorenal syndrome
・ Oculocutaneous albinism
・ Oculocutaneous albinism type I
・ Oculodentodigital dysplasia
Oculofaciocardiodental syndrome
・ Oculogyric crisis
・ Oculohammus densepunctatus
・ Oculolinctus
・ Oculomancy
・ Oculomotor apraxia
・ Oculomotor nerve
・ Oculomotor nerve palsy
・ Oculomotor nucleus
・ Oculomucocutaneous syndrome
・ Oculopharyngeal muscular dystrophy
・ Oculoplastics
・ Oculosida
・ Oculus
・ Oculus (film)


Dictionary Lists
翻訳と辞書 辞書検索 [ 開発暫定版 ]
スポンサード リンク

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



スポンサード リンク
翻訳と辞書 : 翻訳のためのインターネットリソース

Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.