Probably Norrie's disease due to mutation. Two sporadic sibships of two males each, a necropsy of one case, and, given Norrie's disease, a calculation of the gene mutation frequency.

Author:

Phillips C I,Newton M,Duvall J,Holloway S,Levy A M

Publisher

BMJ

Subject

Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology

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3. Norrin: Molecular and functional properties of an angiogenic and neuroprotective growth factor;Progress in Retinal and Eye Research;2012-05

4. Keratotorus bei Morbus Norrie;Klinische Monatsblätter für Augenheilkunde;1991-08

5. A catalogue of multiple congenital anomaly syndromes;Multiple Congenital Anomalies;1991

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