Clinical and molecular diagnostics of a cartilage-hair hypoplasia: Two new cases

被引：0
|
作者：
Fenollar-Cortes, M. [1 ,2 ]
Lara-Orejas, E. [3 ]
Gonzalez-Meneses, A. [4 ]
Ruibal-Francisco, J. L. [3 ]
Trujillo-Tiebas, M. J. [2 ,5 ]
机构：
[1] Hosp Clin San Carlos, Serv & Anal Clin, Secc Genet Clin, Madrid, Spain
[2] Univ Autonoma Madrid, IIS Fdn Jimenez Diaz, Serv Genet, Madrid, Spain
[3] Hosp Infanta Cristina, Dept Pediat, Madrid, Spain
[4] Hosp Univ Virgen del Rocio, Serv Pediat, Unidad Dismorfol, Seville, Spain
[5] Inst Salud Carlos III, CIBERER, Madrid, Spain
来源：
ANALES DE PEDIATRIA | 2015年 / 82卷 / 06期
关键词：
RMRP;
D O I：
10.1016/j.anpedi.2014.12.008
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
引用
收藏
页码：436 / 439
页数：4
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