RHYNS syndrome

Known as: Retinitis pigmentosa syndrome, Retinitis pigmentosa, HYpopituitarism, Nephronophthisis, and mild Skeletal dysplasia 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2001-2017
0120012017

Papers overview

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2017
2017
OBJECTIVE To present the case of a patient with a posterior microphthalmos-optic disc drusen-retinitis pigmentosa syndrome… (More)
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Review
2012
Review
2012
Among the various central nervous system (CNS) manifestations of mitochondrial disorders (MIDs), cognitive impairment is… (More)
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Review
2006
Review
2006
The central nervous system (CNS) is, after the peripheral nervous system, the second most frequently affected organ in… (More)
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2005
2005
The 8993T-->C mutation in mitochondrial DNA (mtDNA) has been described previously to be associated with infantile- or childhood… (More)
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2003
2003
The mitochondrial encephalomyopathies are chronic progressive disorders affecting predominantly the neuromuscular system… (More)
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2001
2001
PURPOSE To report a late-onset cone-rod dystrophy that revealed a familial neurogenic muscle weakness, ataxia, and retinitis… (More)
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