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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 |
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| A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant.pdf | 794.39 kB | Adobe PDF | OPEN | Published | View/Download |
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