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：

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

页码：594 / 597

页数：4