Work

Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants

Year: 2025

Type: article

Study design: Case Report

Source: Clinical Genetics

DOI: 10.1111/cge.70056

Authors: Martin Schwarz, Miroslav Fišer, Lenka Šodková, Eva Míšová, Martin Drahanský, Tomáš Vokálek, Renata Michalovská, Adéla Matějková, Jaroslava Jindrová, Šárka Bendová, Milan Macek

Institutions: Charles University, Masaryk University, University Hospital Hradec Králové

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

Funders: Ministerstvo Školství, Mládeže a Tělovýchovy, Ministerstvo Zdravotnictví Ceské Republiky

Awards: The National Center for Medical Genomic, G2944830580

OpenAlex ID: W4413853181

FWCI:

Cites: 9

Cited by:

Related to: 10