SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism -: art. no. e113

被引：66

作者：

Borozdin, W

Boehm, D

Leipoldt, M

Wilhelm, C

Reardon, W

Clayton-Smith, J

Becker, K

Mühlendyck, H

Winter, R

Giray, Ö

Silan, F

Kohlhase, J

机构：

[1] Univ Freiburg, Inst Human Genet & Anthropol, D-79106 Freiburg, Germany

[2] Univ Gottingen, Inst Human Genet, D-3400 Gottingen, Germany

[3] Our Ladys Hosp Sick Children, Natl Ctr Med Genet, Dublin, Ireland

[4] St Marys Hosp, Dept Clin Genet, Manchester M13 0JH, Lancs, England

[5] Northwick Pk Hosp & Clin Res Ctr, Kennedy Galton Ctr, Harrow HA1 3UJ, Middx, England

[6] Univ Gottingen, Dept Neuroophthalmol, D-3400 Gottingen, Germany

[7] UCL, Sch Med, Inst Child Hlth, London W1N 8AA, England

[8] Dokuz Eylul Univ, Dept Paediat, Div Genet, Izmir, Turkey

[9] Abant Izzet BAysal Univ, Sch Med, Med Biol & Genet Dept, Duzce, Turkey

来源：

JOURNAL OF MEDICAL GENETICS | 2004年 / 41卷 / 09期

关键词：

D O I：

10.1136/jmg.2004.019901

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页数：8

共 36 条

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