scholarly journals A mutation creating an upstream initiation codon in the SOX9 5′ UTR causes acampomelic campomelic dysplasia

2017 ◽  
Vol 5 (3) ◽  
pp. 261-268 ◽  
Author(s):  
Anna E. von Bohlen ◽  
Johann Böhm ◽  
Ramona Pop ◽  
Diana S. Johnson ◽  
John Tolmie ◽  
...  
Keyword(s):  
Initiation Codon ◽  
Campomelic Dysplasia ◽  
Acampomelic Campomelic Dysplasia

scholarly journals Acampomelic campomelic dysplasia with SOX9 mutation

2000 ◽  
Vol 2 (1) ◽  
pp. 88-88
Author(s):  
M K Thong ◽  
G Scherer ◽  
K Koztowski ◽  
E Haan ◽  
L Morris
Keyword(s):  
Campomelic Dysplasia ◽  
Acampomelic Campomelic Dysplasia

scholarly journals Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia

2019 ◽  
Vol 7 (7) ◽  
pp. 1352-1354
Author(s):  
Marie‐Julie Debuf ◽  
Valérie Benoit ◽  
Marie Cassart ◽  
Kalina Gajewska ◽  
Nathalie Gauquier ◽  
...  
Keyword(s):  
Campomelic Dysplasia ◽  
Olfactory Bulbs ◽  
Acampomelic Campomelic Dysplasia ◽  
Diagnostic Indicator

Sex-Reversed Acampomelic Campomelic Dysplasia With a Homozygous Deletion Mutation in SOX9 Gene

Urology ◽  
2012 ◽  
Vol 79 (4) ◽  
pp. 908-911 ◽  
Author(s):  
Shou-Yen Chen ◽  
Shio-Jean Lin ◽  
Li-Ping Tsai ◽  
Yen-Yin Chou
Keyword(s):  
Homozygous Deletion ◽  
Deletion Mutation ◽  
Campomelic Dysplasia ◽  
Sox9 Gene ◽  
Acampomelic Campomelic Dysplasia

Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia

2014 ◽  
Vol 57 (7) ◽  
pp. 315-318 ◽  
Author(s):  
Lauren C. Walters-Sen ◽  
Devon Lamb Thrush ◽  
Scott E. Hickey ◽  
Sayaka Hashimoto ◽  
Shalini Reshmi ◽  
...  
Keyword(s):  
Campomelic Dysplasia ◽  
Acampomelic Campomelic Dysplasia
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