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Article

Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development.

Human mutation - 1 Mar 2022

Marko Hannah L, Hornig Nadine C, Betz Regina C, Holterhus Paul-Martin, Altmüller Janine, Thiele Holger, Fabiano Marietta, Schweikert Hans-Udo, Braun Doreen, Schweizer Ulrich

Abstract excerpt

Transporter-dependent steroid hormone uptake into target cells was demonstrated in genetically engineered mice and fruit flies. We hypothesized that mutations in such transporters may cause differences in sex development (DSD) in humans. Exome sequencing was performed in 16 genetically unsolved cases of 46,XY DSD selected from an anonymized collection of 708 lines of genital fibroblasts (GF) that were taken from...

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Identifiers

PMID: 34979047
DOI: 10.1002/humu.24325

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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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