Please use this identifier to cite or link to this item: https://doi.org/10.1038/s41439-021-00167-5
Title: A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant
Authors: Poon, KS
Tan, KML
Loke, KY 
Issue Date: 1-Dec-2021
Publisher: Springer Science and Business Media LLC
Citation: Poon, KS, Tan, KML, Loke, KY (2021-12-01). A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant. Human Genome Variation 8 (1) : 35-. ScholarBank@NUS Repository. https://doi.org/10.1038/s41439-021-00167-5
Abstract: An infant with 46,XY karyotype, and unambiguous female phenotype was found to have testes in the inguinal regions. Capillary sequencing of the androgen receptor (AR) gene identified a hemizygous de novo mutation (NM_000044.6:c.1621G > T) in exon 2 resulting in a termination codon p.(Glu541*) at the DNA binding domain (DBD). This novel nonsense mutation adds to the compendium of AR mutations which result in complete androgen insensitivity syndrome (AIS).
Source Title: Human Genome Variation
URI: https://scholarbank.nus.edu.sg/handle/10635/206585
ISSN: 2054-345X
DOI: 10.1038/s41439-021-00167-5
Appears in Collections:Staff Publications
Elements

Show full item record
Files in This Item:
File Description SizeFormatAccess SettingsVersion 
A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant.pdf794.39 kBAdobe PDF

OPEN

PublishedView/Download

SCOPUSTM   
Citations

1
checked on May 22, 2022

Page view(s)

56
checked on May 12, 2022

Download(s)

1
checked on May 12, 2022

Google ScholarTM

Check

Altmetric


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.