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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Senior-Loken syndrome with unusual manifestations.

The Senior-Loken syndrome, also called Hereditary Renal Retinal Dystrophy is a rare disorder that combines a juvenile nephronophthisis-like disease with tapetoretinal degeneration. We are reporting a family in which two, possibly three siblings are affected by this disorder. In addition to these two documented components of the disease, our patients also have unusual manifestations: short stature; skeletal abnormalities in the form of kyphoscoliosis, short metacarpals; and cutis laxa-unreported so far.[1]

References

  1. Senior-Loken syndrome with unusual manifestations. Singh, N.P., Anuradha, S., Gupta, S., Rizvi, S.N., Arora, R. The Journal of the Association of Physicians of India. (1998) [Pubmed]
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