scholarly journals Isolation of a Testis-Specific cDNA on Chromosome 17q from a Region Adjacent to the Breakpoint of t(12, 17) Observed in a Patient with Acampomelic Campomelic Dysplasia and Sex Reversal

1996 ◽  
Vol 5 (1) ◽  
pp. 69-72 ◽  
Author(s):  
S. Ninomiya ◽  
M. Isomura ◽  
K. Narahara ◽  
Y. Seino ◽  
Y. Nakamura
Keyword(s):  
Sex Reversal ◽  
Campomelic Dysplasia ◽  
Chromosome 17Q ◽  
Acampomelic Campomelic Dysplasia

scholarly journals Translocation and Deletion around SOX9 in a Patient with Acampomelic Campomelic Dysplasia and Sex Reversal

2010 ◽  
Vol 4 (3) ◽  
pp. 143-149 ◽  
Author(s):  
S. Jakubiczka ◽  
C. Schröder ◽  
R. Ullmann ◽  
M. Volleth ◽  
S. Ledig ◽  
...  
Keyword(s):  
Sex Reversal ◽  
Campomelic Dysplasia ◽  
Acampomelic Campomelic Dysplasia

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 Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene

2014 ◽  
Vol 393 (1-2) ◽  
pp. 1-7 ◽  
Author(s):  
Bala Bhagavath ◽  
Lawrence C. Layman ◽  
Reinhard Ullmann ◽  
Yiping Shen ◽  
Kyungsoo Ha ◽  
...  
Keyword(s):  
Sex Reversal ◽  
Campomelic Dysplasia ◽  
Xy Sex Reversal ◽  
Sox9 Gene

Campomelic dysplasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 gene

2001 ◽  
Vol 10 (3) ◽  
pp. 197-201 ◽  
Author(s):  
Sibylle Jakubiczka ◽  
Thomas Bettecken ◽  
Giesela Koch ◽  
Beyhan T??ys??z ◽  
Bernd Wollnik ◽  
...  
Keyword(s):  
Sex Reversal ◽  
Campomelic Dysplasia ◽  
Turkish Patient ◽  
Sox9 Gene

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

Campomelic Dysplasia with XY Sex Reversal: Diverse Phenotypes Resulting from Mutations in a Single Genea

1996 ◽  
Vol 785 (1) ◽  
pp. 137-149 ◽  
Author(s):  
Alan J. Schafer ◽  
Jamie W. Foster ◽  
Cheni Kwok ◽  
Polly A. Weller ◽  
Silvana Guioli ◽  
...  
Keyword(s):  
Sex Reversal ◽  
Campomelic Dysplasia ◽  
Xy Sex Reversal

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
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