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Article

Loss-of-Function Variant in PPP1R12A -Related Urogenital and/or Brain Malformation Syndrome: Expanded Phenotype of Sex Reversal.

American journal of medical genetics. Part A - 1 Jan 2025

Contreras-Capetillo Silvina Noemí, Abreu-González Melania, Centeno-Navarrete Yahir, Ferro-Muñoz Stephany Renatta, Ceballos-Zapata Julio, García-Martínez Cesiah

Abstract excerpt

Differences of sex development (DSDs) are a heterogeneous group of congenital conditions in which chromosomal, gonadal, or anatomical sex does not match. The broad spectrum of phenotypes associated with DSDs requires accurate diagnosis, which influences the care and quality of life of affected patients. The decreasing costs of next-generation sequencing (NGS) and international research collaborations in rare...

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PMID: 39257322
DOI: 10.1002/ajmg.a.63876

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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