Intrafamilial clinical heterogeneity of CSPP1-related ciliopathy

被引：9

作者：

Ben-Omran, Tawfeg ^{[1
]}

Alsulaiman, Reem ^{[1
]}

Kamel, Hussein ^{[2
,3
]}

Shaheen, Ranad ^{[4
]}

Alkuraya, Fowzan S. ^{[4
,5
]}

机构：

[1] Dept Pediat, Sect Clin & Metab Genet, Doha, Qatar

[2] Hamad Med Corp, Dept Radiol, Doha, Qatar

[3] Weill Cornell Med Coll, Doha, Qatar

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

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

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2015年 / 167卷 / 10期

关键词：

JOUBERT SYNDROME; PRIMARY CILIA; MUTATIONS; CSPP1; PROTEIN;

D O I：

10.1002/ajmg.a.37175

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：2478 / 2480

页数：3

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