Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome

被引:57
作者
Zweier, C
Temple, IK
Beemer, F
Zackai, E
Lerman-Sagie, T
Weschke, B
Anderson, CE
Rauch, A
机构
[1] Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, Germany
[2] Univ Southampton, Wessex Clin Genet Serv, NHS Hosp Trust, Southampton, Hants, England
[3] Univ Med Ctr, Dept Biomed Genet, Utrecht, Netherlands
[4] Childrens Hosp, Clin Genet Ctr, Philadelphia, PA 19104 USA
[5] E Wolfson Med Ctr, Metab Neurogenet Clin, Holon, Israel
[6] Humboldt Univ, Dept Paediat Neurol, Virchow Klinikum, Berlin, Germany
[7] SCHC Pediat, Philadelphia, PA USA
关键词
D O I
10.1136/jmg.40.8.601
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:601 / 605
页数:5
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