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Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutieres syndrome

被引：32
作者：
Crow, YJ
Massey, RF
Innes, JR
Pairaudeau, PW
Hill, CAR
Woods, CG
Ali, M
Livingston, JH
Lebon, P
Nischall, K
McEntagart, M
Hindocha, N
Winter, RM
机构：
[1] Univ Leeds, St Jamess Univ Hosp, Dept Clin Genet, Leeds LS9 7TF, W Yorkshire, England
[2] Univ Leeds, St Jamess Univ Hosp, Mol Med Unit, Leeds LS9 7TF, W Yorkshire, England
[3] Hull Royal Infirm, Dept Paediat, Kingston Upon Hull HU3 2JZ, N Humberside, England
[4] Hull Royal Infirm, Dept Ophthalmol, Kingston Upon Hull HU3 2JZ, N Humberside, England
[5] Hull Royal Infirm, Dept Neuroradiol, Kingston Upon Hull HU3 2JZ, N Humberside, England
[6] Leeds Gen Infirm, Dept Paediat Neuro, Leeds, W Yorkshire, England
[7] Hop St Vincent de Paul, Serv Virol, F-75674 Paris, France
[8] Great Ormond St Hosp Children, Dept Ophthalmol, London WC1N 3JH, England
[9] Great Ormond St Hosp Children, Dept Clin Genet, Inst Child Hlth, London WC1N 3JH, England
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2004年 / 129A卷 / 03期
关键词：
Aicardi-Goutieres syndrome; intracranial calcification; glaucoma; brain stem atrophy;
D O I：
10.1002/ajmg.a.30250
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We report on three children from two families with Aicardi-Goutieres syndrome. All three had congenital glaucoma. Additionally, neuroimaging demonstrated significant brain stem atrophy in the affected sib-pair. These features have not been previously described in Aicardi-Goutieres syndrome and expand the phenotypic spectrum. (C) 2004 Wiley-Liss, Inc.
引用
收藏
页码：303 / 307
页数：5
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