Associated Papers
Neuroradiological Phenotype Expansion of the Siddiqi Syndrome: A Case Report.
Trilla P et al.
Cellular and Molecular Neurobiology, 2026
FITM2-Related Siddiqi Syndrome in Two Iranian Siblings.
Ahmadi R et al.
Clinical Case Reports, 2025
Partial loss of FITM2 function causes hereditary spastic paraplegia.
Salazar-Villacorta A et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
The first case of deafness-dystonia syndrome due to compound heterozygous variants in FITM2.
Shakir A et al.
Clinical Case Reports, 2018
A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy.
Zazo Seco C et al.
Disease Models & Mechanisms, 2017
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