Work

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

Year: 2024

Type: article

Study design: Case Report

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.63876

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

Institutions: Autonomous University of Yucatán, Secretaria de Salud, Centro Médico ABC, Mexican Social Security Institute

Language: English

Topic: Sexual Differentiation and Disorders

Subfield: Endocrinology, Diabetes and Metabolism

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4402448874

FWCI: 1.833

Cites: 9

Cited by: 7

Related to: 10