Work

A novel CEP57 gene mutation in mosaic variegated aneuploidy syndrome 2: case report

Year: 2026

Type: article

Study design: Case Report

Source: Journal of Pediatric Endocrinology and Metabolism

DOI: 10.1515/jpem-2025-0643

Authors: Cristina Pellicer Viudes, María Mansó Borrás, Susana Enrique Madrid, Berta Diago García, Armando Carlos Maruenda Jiménez, Paula Guzmán Tena, María Leticia Vázquez Álvarez, Victoria Cañadas Olmo, Dolores Tío Guillamón, María Amparo Edo Tena, Edurne Novella-Maestre, Purificación Marín Reina

Institution: Hospital Universitari i Politècnic La Fe

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W7129427768

FWCI:

Cites: 13

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