SPATA7-Associated Juvenile Retinitis Pigmentosa in Two Brothers from a Consanguineous Iraqi Family in Switzerland

被引:0
作者
Yahya, Faady [1 ,2 ,7 ]
Escher, Pascal [3 ,4 ]
Rivolta, Carlo [1 ,5 ,6 ]
Scholl, Hendrik Pn. [1 ,2 ,5 ]
Roulez, Francoise [1 ]
机构
[1] Univ Basel, Dept Ophthalmol, Basel, Switzerland
[2] Univ Hosp Basel Eye Clin, Basel, Switzerland
[3] Univ Bern, Bern Univ Hosp, Dept Ophthalmol, Inselspital, Bern, Switzerland
[4] Univ Bern, Dept Biomed Res, Bern, Switzerland
[5] Inst Mol & Clin Ophthalmol Basel, Basel, Switzerland
[6] Univ Leicester, Dept Genet & Genome Biol, Leicester, England
[7] Univ Basel, Univ Hosp Basel Eye Clin, Dept Ophthalmol, Mittlere Str 91, CH-4031 Basel, Switzerland
关键词
LEBER CONGENITAL AMAUROSIS; MUTATIONS; SPATA7; GENE; SPECTRUM;
D O I
10.1055/a-2009-0498
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
引用
收藏
页码:544 / 548
页数:5
相关论文
共 3 条
  • [1] Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa
    Sengillo, Jesse D.
    Lee, Winston
    Bilancia, Colleen G.
    Jobanputra, Vaidehi
    Tsang, Stephen H.
    DOCUMENTA OPHTHALMOLOGICA, 2018, 136 (02) : 125 - 133
  • [2] SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa
    Matsui, Rodrigo
    McGuigan, David B., III
    Gruzensky, Michaela L.
    Aleman, Tomas S.
    Schwartz, Sharon B.
    Sumaroka, Alexander
    Koenekoop, Robert K.
    Cideciyan, Artur V.
    Jacobson, Samuel G.
    OPHTHALMIC GENETICS, 2016, 37 (03) : 333 - 338
  • [3] A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family
    Saini, Seema
    Robinson, Peter N.
    Singh, Jai Rup
    Vanita, Vanita
    EXPERIMENTAL EYE RESEARCH, 2012, 104 : 82 - 88