Article

Genetic, Genomic and Biophysical Case Study: Familial 46, XY Sex Reversal due to a Novel Inherited Mutation in Human Testis-Determining Factor SRY

2021-05-06

Abstract excerpt

<h4>Objective</h4> To describe the clinical, histopathological and molecular features of a novel inherited SRY allele (p.Met64Val; consensus box position 9) observed within an extensive pedigree: two 46, XY sisters with primary amenorrhea (16 and 14 years of age; probands P1 and P2), their normal father and brother, and an affected paternal XY grandaunt. <h4>Design, Setting, Participants and Outcome Measurement...

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Literature Corpus work: 0de92be8-72db-52b0-b459-166154ad4114
DOI: 10.1101/2021.05.05.442859

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