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Article

A missense mutation (c.226C>A) in HMG box SRY gene affects nNLS function in 46,XY sex reversal female.

Andrologia - 1 Jun 2021

Ambulkar Prafulla S, Waghmare Jwalant E, Verma Shivkumar Poonam, Narang Pratibha, Pal Asoke K

Abstract excerpt

The SRY initiates cascade of gene expression that transforms the undifferentiated gonad, genital ridge into testis. Mutations of the SRY gene is associated with complete gonadal dysgenesis in females with 46,XY karyotype. Primary amenorrhea is one of the clinical findings to express the genetic cause in 46,XY sex reversal. Here, we report a 26-year-old married woman presenting with primary amenorhea and complete...

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Identifiers

PMID: 33570214
DOI: 10.1111/and.14011

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A missense mutation (c.226C>A) in HMG box SRY gene affects nNLS function in 46,XY sex reversal female.PMID 33570214Read ↗

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The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46,XY disorder of sex development.Semantic proximity Read ↗

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