Recurrence of Hirschsprung disease due to maternal mosaicism of a novel RET gene mutation

被引：3
|
作者：
Aminosoa, C. [1 ,2 ]
Garcia-Minaur, S. [2 ,3 ]
Martinez, L. [4 ,5 ]
Tenorio, J. A. [1 ,2 ]
Tovar, J. A. [4 ,5 ]
Lapunzina, P. [2 ,3 ]
Solera, J. [1 ,2 ]
机构：
[1] Univ Autonoma Madrid, Hosp Univ La Paz, Inst Genet Med & Mol INGEMM, Mol Oncogenet Sect, Madrid, Spain
[2] Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras CIBERER, U753, Madrid, Spain
[3] Univ Autonoma Madrid, Hosp Univ La Paz, Inst Genet Med & Mol INGEMM, Clin Genet Sect, Madrid, Spain
[4] Univ Autonoma Madrid, Hosp Univ La Paz, INGEMM, Dept Pediat Surg, Madrid, Spain
[5] Univ Autonoma Madrid, Hosp Univ La Paz, IdiPAZ Res Lab, Madrid, Spain
来源：
CLINICAL GENETICS | 2014年 / 85卷 / 04期
关键词：
SOMATIC MOSAICISM;
D O I：
10.1111/cge.12163
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
[No abstract available]
引用
收藏
页码：401 / 402
页数：2
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