Intrafamilial Clinical Heterogeneity Associated with a Novel Mutation of the Retinal Degeneration Slow/Peripherin Gene

2007 ◽  
Vol 39 (5) ◽  
pp. 255-259 ◽  
Author(s):  
Francesca Simonelli ◽  
Francesco Testa ◽  
Valeria Marini ◽  
Emanuela Interlandi ◽  
Settimio Rossi ◽  
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Retinal Degeneration ◽  
Novel Mutation ◽  
Clinical Heterogeneity

scholarly journals Identification of a Novel Mutation in the CDHR1 Gene in a Family With Recessive Retinal Degeneration

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Vol 130 (10) ◽  
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Austin Roorda ◽  
Mili Navani ◽  
Sangeetha Vishweswaraiah ◽  
Reema Syed ◽  
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Retinal Degeneration ◽  
Novel Mutation

scholarly journals A novel mutation in Prph2, a gene regulated by Nr2e3, causes retinal degeneration and outer-segment defects similar to Nr2e3 rd7/rd7 retinas

2008 ◽  
Vol 19 (9) ◽  
pp. 623-633 ◽  
Author(s):  
Arne M. Nystuen ◽  
Andrew J. Sachs ◽  
Yang Yuan ◽  
Laura Heuermann ◽  
Neena B. Haider
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Outer Segment ◽  
Novel Mutation

scholarly journals Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB

Neurology ◽  
2015 ◽  
Vol 84 (17) ◽  
pp. 1818-1820 ◽  
Author(s):  
M. J. Keogh ◽  
A. Pyle ◽  
D. Daud ◽  
H. Griffin ◽  
K. Douroudis ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Clinical Heterogeneity ◽  
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scholarly journals CRB1 related retinal degeneration with novel mutation

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Vol 18 ◽  
pp. 100699
Author(s):  
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Edward H. Wood ◽  
Aristomenis Thanos ◽  
Sandeep Randhawa
Keyword(s):  
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Novel Mutation

Congenital mirror movements in a family with a novel mutation in the DCC gene

2011 ◽  
Vol 42 (S 01) ◽  
Author(s):  
GC Korenke ◽  
M Wagner ◽  
A Maak ◽  
G Rosenberger ◽  
K Kutsche
Keyword(s):  
Novel Mutation ◽  
Mirror Movements ◽  
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