Expanding the Skeletal Phenotype of Loeys-Dietz Syndrome

被引：12
作者：
Sousa, Sergio B. [1 ,2 ]
Lambot-Juhan, Karen [3 ]
Rio, Marlene [1 ]
Baujat, Genevieve [1 ]
Topouchian, Vicken [4 ]
Hanna, Nadine [5 ]
Le Merrer, Martine [1 ]
Brunelle, Francis [3 ]
Munnich, Arnold [1 ]
Boileau, Catherine [1 ,5 ]
Cormier-Daire, Valerie [1 ]
机构：
[1] Univ Paris 05, AP HP, Dept Med Genet, Hop Necker Enfants Malad,INSERM U781, Paris, France
[2] Hosp Pediat Coimbra, Serv Genet Med, Coimbra, Portugal
[3] Hop Necker Enfants Malad, Serv Radiol Pediat, Paris, France
[4] Hop Necker Enfants Malad, Serv Chirurg Orthoped Pediat, Paris, France
[5] Univ Versailles SQY, Serv Biochim & Genet Mol, Hop Ambroise Pare, AP HP, Boulogne, France
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2011年 / 155A卷 / 05期
关键词：
MARFAN-SYNDROME; BETA RECEPTOR; MUTATIONS; TGFBR2; DISORDERS; GENES;
D O I：
10.1002/ajmg.a.33813
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：1178 / 1183
页数：6
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