Work

LSM1 c.231+4A>C hotspot variant is associated with a novel neurodevelopmental syndrome: first patient cohort

Year: 2025

Type: article

Source: Journal of Medical Genetics

DOI: 10.1136/jmg-2024-110574

Authors: Sivan Reytan Miron, Alina Kurolap, Bassam Abu-Libdeh, Abdel Salam Abu-Libdeh, Clara Velmans, Florian Erger, Vera Riehmer, Tzung-Chien Hsieh, Hellen Lesmann, Adi Reches, Chofit Chai Gadot, Adi Mory, Motee Al-Ashhab, Christian Netzer, Nadirah Damseh, Hagit Baris Feldman

Institutions: Tel Aviv Sourasky Medical Center, Al-Quds University, University Hospital Cologne, University Hospital Bonn, University of Bonn, Tel Aviv University

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: W4409312644

FWCI: 0.537

Cites: 20

Cited by: 1

Related to: 10