Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes

被引：15

作者：

Leeflang, EP

Marsh, SE

Parrini, E

Moro, F

Pilz, D

Dobyns, WB

Guerrini, R

Wheless, JW

Gleeson, JG ^{[1
]}

机构：

[1] Univ Calif San Diego, Dept Neurosci, MTF 312, La Jolla, CA 92093 USA

[2] Univ Pisa, IRCCS, Fdn Stella Maris, INPE,Neurogenet Lab, Pisa, Italy

[3] Univ Wales Hosp, Inst Med Genet, Cardiff CF4 4XN, S Glam, Wales

[4] Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA

[5] Univ Chicago, Dept Neurol, Chicago, IL 60637 USA

[6] Univ Chicago, Dept Pediat, Chicago, IL 60637 USA

[7] Great Ormond St Hosp Sick Children, Neurosci Unit, London WC1N 3JH, England

[8] UCL, Inst Child Hlth, London, England

[9] Univ Texas, Texas Comprehens Epilepsy Program, Dept Neurol & Pediat, Houston, TX USA

来源：

JOURNAL OF MEDICAL GENETICS | 2003年 / 40卷 / 12期

关键词：

D O I：

10.1136/jmg.40.12.e128

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页数：6

共 17 条

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