Work

Clinical and Genetic Characterization of Hereditary Sensory and Autonomic Neuropathy Type IV in a Consanguineous Population: Identification of Novel NTRK1 Variants and Expansion of Phenotypic Spectrum

Year: 2025

Type: article

Study design: Observational Study

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmga.70019

Authors: Amal AlHashem, Hanan AlQudairy, Jana Raed, Bashaer Al Bulushi, Eissa Faqeih, Rafa Alotbi, Fuad Al Mutairi, Majid Alfadhel, Fowzan Alkuraya, Namik Kaya

Institutions: Alfaisal University, King Fahad Specialist Hospital, King Faisal Specialist Hospital & Research Centre, Riyadh Armed Forces Hospital, King Fahd Medical City, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, King Abdullah International Medical Research Center, National Guard Health Affairs, King Salman Center for Disability Research

Language: English

Topic: Hereditary Neurological Disorders

Subfield: Cellular and Molecular Neuroscience

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: King Salman Center for Disability Research

Awards: G1544008539, G2250038397

OpenAlex ID: W7117674635

FWCI:

Cites: 19

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