Recurrent short rib polydactyly syndrome

2012 ◽  
Vol 33 (1) ◽  
pp. 14-16 ◽  
Author(s):  
M. Eleftheriades ◽  
C. Iavazzo ◽  
E. Manolakos ◽  
D. Hassiakos ◽  
D. Botsis ◽  
...  
Keyword(s):  
Short Rib Polydactyly Syndrome

scholarly journals Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

2015 ◽  
Vol 97 (2) ◽  
pp. 311-318 ◽  
Author(s):  
Caroline Alby ◽  
Kevin Piquand ◽  
Céline Huber ◽  
André Megarbané ◽  
Amale Ichkou ◽  
...  
Keyword(s):  
Short Rib Polydactyly Syndrome

Short rib-polydactyly syndrome in twins: Beemer-Langer type with poly dactyly

2008 ◽  
Vol 50 (3) ◽  
pp. 159-163 ◽  
Author(s):  
Nursel Elçioǧlu ◽  
Güner Karatekin ◽  
Betül Sezgin ◽  
Asiye Nuhoǧlu ◽  
Asim Cenani
Keyword(s):  
Short Rib Polydactyly Syndrome

scholarly journals DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

2009 ◽  
Vol 84 (5) ◽  
pp. 706-711 ◽  
Author(s):  
Nathalie Dagoneau ◽  
Marie Goulet ◽  
David Geneviève ◽  
Yves Sznajer ◽  
Jelena Martinovic ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Type Iii ◽  
Asphyxiating Thoracic Dystrophy ◽  
Short Rib Polydactyly Syndrome ◽  
Thoracic Dystrophy

scholarly journals Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

2015 ◽  
Vol 97 (2) ◽  
pp. 353
Author(s):  
Caroline Alby ◽  
Kevin Piquand ◽  
Céline Huber ◽  
André Megarbané ◽  
Amale Ichkou ◽  
...  
Keyword(s):  
Short Rib Polydactyly Syndrome

scholarly journals Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome

2015 ◽  
Vol 6 (1) ◽  
Author(s):  
S. Paige Taylor ◽  
◽  
Tiago J. Dantas ◽  
Ivan Duran ◽  
Sulin Wu ◽  
...  
Keyword(s):  
Short Rib Polydactyly Syndrome

Short rib-polydactyly syndrome type I, Saldino-Noonan

1980 ◽  
Vol 133 (1) ◽  
pp. 63-65 ◽  
Author(s):  
Nobuhiro Kaibara ◽  
Masao Eguchi ◽  
Kenichiro Shibata ◽  
Kenji Takagishi
Keyword(s):  
Type I ◽  
Syndrome Type ◽  
Short Rib Polydactyly Syndrome
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