DEAH-box helicase 37 (DHX37) defects are a novel molecular etiology of 46,XY gonadal dysgenesis spec...
DEAH-box helicase 37 (DHX37) defects are a novel molecular etiology of 46,XY gonadal dysgenesis spectrum
About this item
Full title
Author / Creator
Thatiana Evelin Da Silva , Nathalia Lisboa Gomes , Lerario, Antonio M , Keegan, Catherine E , Mirian Yumie Y Nishi , Carvalho, Filomena M , Vilain, Eric , Barseghyan, Hayk , Martinez-Aguayo, Alejandro , claz, Maria Verónica , Papazian, Regina , Luciani, Renata Carvalho , Elaine Frade Costa , Mendonca, Berenice B and Domenice, Sorahia
Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title
Language
English
Formats
Publication information
Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Subjects
More information
Scope and Contents
Contents
46, XY gonadal dysgenesis is a heterogeneous disorder of sex development (DSD) that features abnormal gonadal development and varying degrees of undervirilization of the external genitalia, ranging from micropenis to female-like genitalia. Embryonic testicular regression syndrome (ETRS; MIM: 273250) is considered part of the clinical spectrum of 46...
Alternative Titles
Full title
DEAH-box helicase 37 (DHX37) defects are a novel molecular etiology of 46,XY gonadal dysgenesis spectrum
Authors, Artists and Contributors
Author / Creator
Nathalia Lisboa Gomes
Lerario, Antonio M
Keegan, Catherine E
Mirian Yumie Y Nishi
Carvalho, Filomena M
Vilain, Eric
Barseghyan, Hayk
Martinez-Aguayo, Alejandro
claz, Maria Verónica
Papazian, Regina
Luciani, Renata Carvalho
Elaine Frade Costa
Mendonca, Berenice B
Domenice, Sorahia
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_2153840121
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2153840121
Other Identifiers
E-ISSN
2692-8205
DOI
10.1101/477992
How to access this item
https://www.proquest.com/docview/2153840121?pq-origsite=primo&accountid=13902
