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FITM2-Related Siddiqi Syndrome in Two Iranian Siblings
Raha Ahmadi1, Mohammad Javad Bavarsad1, Meysam Feizollah Jani1
1Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center Ahvaz Jundishapur University of Medical Sciences Ahvaz Iran.
Abstract:
We report the first two Iranian siblings with Siddiqi syndrome, carrying a novel likely pathogenic FITM2 variant. Both presented with hallmark features, including early-onset sensorineural hearing loss, severe generalized dystonia, growth failure, and ichthyosis of the lower limbs, expanding the geographic and genetic spectrum of this rare disorder.
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