FMR1, FMR2, and SLITRK2 Deletion Inside a Paracentric Inversion Involving Bands Xq27.3-q28 in a Male and His Mother

被引:8
作者
Cavani, Simona [1 ]
Prontera, Paolo [2 ,3 ]
Grasso, Marina [1 ]
Ardisia, Carmela [2 ,3 ]
Malacarne, Michela [1 ]
Gradassi, Cristina [2 ,3 ]
Cecconi, Massimiliano [1 ]
Mencarelli, Amedea [2 ,3 ]
Donti, Emilio [2 ,3 ]
Pierluigi, Mauro [1 ]
机构
[1] Galliera Hosp, Genet Lab, I-16128 Genoa, Italy
[2] Univ Perugia, Med Genet Unit, I-06100 Perugia, Italy
[3] Hosp Perugia, Perugia, Italy
关键词
INCLUDING FMR1; INACTIVATION; XQ27-Q28; GENES; IDS;
D O I
10.1002/ajmg.a.33515
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:221 / 224
页数:4
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