Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

Nature ◽  
1994 ◽  
Vol 372 (6506) ◽  
pp. 525-530 ◽  
Author(s):  
Jamie W. Foster ◽  
Marina A. Dominguez-Steglich ◽  
Silvana Guioli ◽  
Cheni Kwok ◽  
Polly A. Weller ◽  
...  
Keyword(s):  
Sex Reversal ◽  
Related Gene ◽  
Campomelic Dysplasia

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

Cell ◽  
1994 ◽  
Vol 79 (6) ◽  
pp. 1111-1120 ◽  
Author(s):  
Thomas Wagner ◽  
Jutta Wirth ◽  
Jobst Meyer ◽  
Bernhard Zabel ◽  
Marika Held ◽  
...  
Keyword(s):  
Sex Reversal ◽  
Related Gene ◽  
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

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 Novel SOX9 Gene Mutation in Campomelic Dysplasia with Autosomal Sex Reversal

2006 ◽  
Vol 105 (12) ◽  
pp. 1013-1016 ◽  
Author(s):  
Hui-Pin Hsiao ◽  
Li-Ping Tsai ◽  
Mei-Chyn Chao ◽  
Hsin-I Tseng ◽  
Yuli C. Chang
Keyword(s):  
Gene Mutation ◽  
Sex Reversal ◽  
Campomelic Dysplasia ◽  
Sox9 Gene

scholarly journals Campomelic Dysplasia with Sex Reversal Harboring a Novel Frameshift Mutation

2020 ◽  
Vol 27 (4) ◽  
pp. 197-201
Author(s):  
Ha Na Lee ◽  
Chae Young Kim ◽  
Euiseok Jung ◽  
Beom Hee Lee ◽  
Byong Sop Lee ◽  
...  
Keyword(s):  
Frameshift Mutation ◽  
Sex Reversal ◽  
Campomelic Dysplasia
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