Senior-Loken syndrome secondary to NPHP5/IQCB1 mutation in an Iranian family

Senior-Loken syndrome (SLS) is a rare autosomal recessive disease characterized by nephronophthisis and early-onset retinal degeneration. We used a large Iranian family with SLS to establish a molecular genetic diagnosis. Following clinical evaluation, we undertook homozygosity mapping in two affect...

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Detalles Bibliográficos
Autores principales: Haghighi, Alireza, Al-Hamed, Mohamed, Al-Hissi, Safa, Hynes, Ann-Marie, Sharifian, Maryam, Roozbeh, Jamshid, Saleh-Gohari, Nasrollah, Sayer, John A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2011
Materias:
II. Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421651/
https://www.ncbi.nlm.nih.gov/pubmed/25984213
http://dx.doi.org/10.1093/ndtplus/sfr096

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421651/
https://www.ncbi.nlm.nih.gov/pubmed/25984213
http://dx.doi.org/10.1093/ndtplus/sfr096

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