Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1)...
Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1) gene
About this item
Full title
Author / Creator
Eozenou, Caroline , Gonen, Nitzan , Touzon, Maria Sol , Jorgensen, Anne , Yatsenko, Svetlana A. , Fusee, Leila , Kamel, Alaa K. , Gellen, Balazs , Guercio, Gabriela , Singh, Priti , Witchel, Selma , Berman, Andrea J. , Mainpal, Rana , Totonchi, Mehdi , Meybodi, Anahita Mohseni , Askari, Masomeh , Merel-Chali, Tiphanie , Bignon-Topalovic, Joelle , Migale, Roberta , Costanzo, Mariana , Marino, Roxana , Ramirez, Pablo , Garrido, Natalia Perez , Berensztein, Esperanza , Mekkawy, Mona K. , Schimenti, John C. , Bertalan, Rita , Mazen, Inas , McElreavey, Ken , Belgorosky, Alicia , Lovell-Badge, Robin , Rajkovic, Aleksandar and Bashamboo, Anu
Publisher
United States: National Academy of Sciences
Journal title
Language
English
Formats
Publication information
Publisher
United States: National Academy of Sciences
Subjects
More information
Scope and Contents
Contents
Sex determination in mammals is governed by antagonistic interactions of two genetic pathways, imbalance in which may lead to disorders/differences of sex development (DSD) in human. Among 46,XX individuals with testicular DSD (TDSD) or ovotesticular DSD (OTDSD), testicular tissue is present in the gonad. Although the testis-determining gene SRY is...
Alternative Titles
Full title
Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1) gene
Authors, Artists and Contributors
Author / Creator
Gonen, Nitzan
Touzon, Maria Sol
Jorgensen, Anne
Yatsenko, Svetlana A.
Fusee, Leila
Kamel, Alaa K.
Gellen, Balazs
Guercio, Gabriela
Singh, Priti
Witchel, Selma
Berman, Andrea J.
Mainpal, Rana
Totonchi, Mehdi
Meybodi, Anahita Mohseni
Askari, Masomeh
Merel-Chali, Tiphanie
Bignon-Topalovic, Joelle
Migale, Roberta
Costanzo, Mariana
Marino, Roxana
Ramirez, Pablo
Garrido, Natalia Perez
Berensztein, Esperanza
Mekkawy, Mona K.
Schimenti, John C.
Bertalan, Rita
Mazen, Inas
McElreavey, Ken
Belgorosky, Alicia
Lovell-Badge, Robin
Rajkovic, Aleksandar
Bashamboo, Anu
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7306989
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7306989
Other Identifiers
ISSN
0027-8424
E-ISSN
1091-6490
DOI
10.1073/pnas.1921676117
