- Clinical features of Senior–Loken syndrome with IQCB1/NPHP5 mutation in a Filipino man
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Chiu HHC, Sucaldito MSFP, Maceda EBG, Montemaor JAS, Tamondong-Lachica DR
- KMID: 2503610
- J Genet Med.
- 2020 Jun;17(1):39-42.
- doi: 10.5734/JGM.2020.17.1.39
The Senior–Loken syndrome was first described in 1961 as an oculo-renal disease consisting of familial juvenile nephronophthisis and Leber congenital amaurosis. It is a rare autosomal recessive disorder with a... -
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