No evidence for locus heterogeneity in Knobloch syndrome

被引：19

作者：

Aldahmesh, Mohammed A. ^{[1
]}

Khan, Arif O. ^{[2
]}

Mohamed, Jawahir Y. ^{[1
]}

Levin, Alex V. ^{[3
]}

Wuthisiri, Wadakarn ^{[4
]}

Lynch, Sally ^{[5
]}

McCreery, K. ^{[6
]}

Alkuraya, Fowzan S. ^{[1
,7
]}

机构：

[1] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia

[2] King Khalid Eye Specialist Hosp, Riyadh, Saudi Arabia

[3] Thomas Jefferson Univ, Wills Eye Inst, Philadelphia, PA 19107 USA

[4] Wills Eye Inst, Philadelphia, PA USA

[5] Our Ladys Childrens Hosp, Natl Ctr Med Genet, Dublin, Ireland

[6] Our Ladys Childrens Hosp, Dept Ophthalmol, Dublin, Ireland

[7] Alfaisal Univ, Coll Med, Dept Anat & Cell Biol, Riyadh, Saudi Arabia

来源：

JOURNAL OF MEDICAL GENETICS | 2013年 / 50卷 / 08期

关键词：

Academic medicine;

D O I：

10.1136/jmedgenet-2013-101755

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：565 / 566

页数：2

共 8 条

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[6] Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families
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[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 119A (01) : 15 - 19
[7] Menzel O, HUM MUTAT
[8] Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome)
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[J]. HUMAN MOLECULAR GENETICS, 2000, 9 (13) : 2051 - 2058

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