Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly

被引:57
作者
Lenski, C
Abidi, F
Meindl, A
Gibson, A
Platzer, M
Kooy, RF
Lubs, HA
Stevenson, RE
Ramser, J
Schwartz, CE [1 ]
机构
[1] Univ Munich, Dept Med Genet, Munich, Germany
[2] Greenwood Genet Ctr, JC Self Res Inst, Greenwood, SC 29646 USA
[3] Royal Univ Hosp, Saskatoon, SK S7N 0W8, Canada
[4] Inst Mol Biotechnol, Jena, Germany
[5] Univ Antwerp, Dept Med Genet, B-2020 Antwerp, Belgium
[6] Univ Miami, Sch Med, Mailman Ctr Child Dev, Miami, FL USA
关键词
D O I
10.1086/383205
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:777 / 780
页数:4
相关论文
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