Autosomal dominant PIK3R1 mutations cause SHORT syndrome

2013 ◽  
Vol 85 (3) ◽  
pp. 228-229 ◽  
Author(s):  
B.K. Chung ◽  
W.T. Gibson
Keyword(s):  
Autosomal Dominant ◽  
Short Syndrome

SHORT syndrome: A new case with probable autosomal dominant inheritance

1996 ◽  
Vol 61 (2) ◽  
pp. 178-181 ◽  
Author(s):  
Giovanni Sorge ◽  
Martino Ruggieri ◽  
Agata Polizzi ◽  
Antonino Scuderi ◽  
Massimo Di Pietro
Keyword(s):  
Autosomal Dominant ◽  
Autosomal Dominant Inheritance ◽  
Dominant Inheritance ◽  
Short Syndrome

859: Autosomal Dominant Tranmission of Genitovaginal Prolapse

2005 ◽  
Vol 173 (4S) ◽  
pp. 233-234
Author(s):  
Gregory S. Jack ◽  
Raviender Bukkapatnam ◽  
Ganka Nicolav ◽  
Eric Vilain ◽  
Larissa V. Rodriguez
Keyword(s):  
Autosomal Dominant

A frequent gene mutation associated with autosomal dominant Parkinson's disease

The Lancet ◽  
2005 ◽  
Vol 365 (9457) ◽  
pp. 412-415 ◽  
Author(s):  
A DIFONZO ◽  
C ROHE ◽  
J FERREIRA ◽  
H CHIEN ◽  
L VACCA ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Gene Mutation ◽  
Autosomal Dominant
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