Identification of a New Missense Mutation (Gly95Glu) in a Highly Conserved Codon within the High-Mobility Group Box of the Sex-Determining Region Y Gene: Report on a 46,XY Female with Gonadal Dysgenesis and Yolk-Sac Tumor

2000 ◽  
Vol 85 (6) ◽  
pp. 2287-2292 ◽  
Author(s):  
A. Schaffler
Keyword(s):  
Missense Mutation ◽  
Gonadal Dysgenesis ◽  
High Mobility ◽  
Yolk Sac ◽  
High Mobility Group ◽  
Yolk Sac Tumor ◽  
Xy Female

scholarly journals Postchemotherapy sarcoma as a somatic-type malignancy derived from the gonadal yolk sac tumor in a patient with 46, XY pure gonadal dysgenesis

2019 ◽  
Vol Volume 12 ◽  
pp. 2365-2372 ◽  
Author(s):  
Xuan Zong ◽  
Jia-Xin Yang ◽  
Ying Zhang ◽  
Dong-Yan Cao ◽  
Keng Shen ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Yolk Sac ◽  
Yolk Sac Tumor

A Homozygous Missense Mutation in FANCA Gene in a 46,XY Female with Gonadal Dysgenesis

2018 ◽  
Author(s):  
Inas Mazen ◽  
Kenneth McElreavey ◽  
Maha M. Eid ◽  
Anu Bashamboo ◽  
Ghada Kamah
Keyword(s):  
Missense Mutation ◽  
Gonadal Dysgenesis ◽  
Homozygous Missense Mutation ◽  
Xy Female
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