A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome

被引：24
|
作者：
Steindl, K. [1 ,2 ]
Alazami, A. M. [3 ]
Bhatia, K. P. [4 ]
Wuerfel, J. T. [5 ]
Petersen, D. [5 ]
Cartolari, R. [6 ]
Neri, G. [2 ]
Klein, C. [7 ]
Mongiardo, B. [1 ]
Alkuraya, F. S. [3 ]
Schneider, S. A. [4 ,7 ]
机构：
[1] Osped Belcolle, Med Genet Unit, Viterbo, Italy
[2] Univ Cattolica Sacro Cuore, Inst Med Genet, Rome, Italy
[3] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia
[4] Inst Neurol, Sobell Dept Motor Neurosci & Movement Disorders, London WC1N 3BG, England
[5] Osp Belcolle, Inst Neuroradiol, Viterbo, Italy
[6] Osp Belcolle, Neuroimaging Unit, Viterbo, Italy
[7] Med Univ Lubeck, Sect Clin & Mol Neurogenet, Dept Neurol, D-23538 Lubeck, Germany
来源：
CLINICAL GENETICS | 2010年 / 78卷 / 06期
关键词：
DIABETES-MELLITUS; MENTAL-RETARDATION; HYPOGONADISM; ALOPECIA; DEAFNESS; DISEASE; FAMILY;
D O I：
10.1111/j.1399-0004.2010.01447.x
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：594 / 597
页数：4
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