Work

Nueva variante patogénica c.3855+4A>G en el gen NIPBL asociada al síndrome de Cornelia de Lange tipo 1 (OMIM#122470)

Year: 2025

Type: article

Source: Anales de Pediatría

DOI: 10.1016/j.anpedi.2025.503771

Authors: Sandra Maeso-Méndez, Saioa Jiménez Echevarría, Zuriñe García Casales, Ignacio Díez López

Institutions: Hospital Universitario Araba, University of the Basque Country

Language: Spanish

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: diamond

OpenAlex ID: W4406972984

FWCI:

Cites: 4

Cited by:

Related to: 10