Twins with Senior-Loken syndrome

Author:

Giridhar S.,Padmaraj R.,Senguttuvan Prabha

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Reference16 articles.

1. Smith CH and Graham YB. Congenital medullary cystic disease of the kidney with severe refractory anemia.Am J Dis Child 1945; 69: 369–377.

2. Fanconi G, Hanhart E, von Albertini A, Euhlinger R, Dolivo G, Prader A. Die familiäre juvenile Nephronophthise.Helv Pediatr Acta 1951; 6: 1–9.

3. Otto EAet al. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.Nat Genet 2005; 37(3): 282–288.

4. Fillastre YP, General J, Riberi P, Marx P, Whitworth JA, Kunh JM. Senior-Loken syndrome (nephronophthisis and tapetoretinal degeneration): a study of 8 cases from 5 families.Clin Nephrol 1976; 5: 14–19.

5. McGregor AR, Bailey RR. Nephronophthisis cystic renal medullary complex. Diagnosis by computer tomography.Nephron 1989; 53: 70–72.

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2. Potpourri of retinopathies in rare eye disease – A case series;Indian Journal of Ophthalmology;2022

3. Senior-Loken syndrome: A case report;Karnataka Pediatric Journal;2020-09-09

4. Senior Loken Syndrome;JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH;2016

5. Senior- Loken Syndrome – A Ciliopathy;JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH;2014

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