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Posterior column ataxia with retinitis pigmentosa (PCARP) in an Iranian patient associated with the FLVCR1 gene.

Ophthalmic genetics - 1 Feb 2020

Beigi Fahimeh, Del Pozo-Valero Marta, Martin-Merida Inmaculada, Vahidi Mehrjardi Mohammad Yahya, Manaviat Masoud Reza, Sherafat Amir, Ayuso Carmen, Ghasemi Nasrin

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PMID: 32039643
DOI: 10.1080/13816810.2020.1720743

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Related research

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Posterior column ataxia with retinitis pigmentosa (PCARP) in an Iranian patient associated with the FLVCR1 gene.PMID 32039643Read ↗

Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene.Semantic proximity Read ↗

Isolated juvenile macular dystrophy without posterior column ataxia associated with FLVCR1 mutation.Semantic proximity Read ↗

Extending the phenotype of posterior column ataxia with retinitis pigmentosa caused by variants in FLVCR1.Semantic proximity Read ↗

FLVCR1-related disease as a rare cause of retinitis pigmentosa and hereditary sensory autonomic neuropathy.Semantic proximity Read ↗

A Novel FLVCR1 Variant Implicated in Retinitis Pigmentosa.Semantic proximity Read ↗

Coexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver-McFarlane Syndromes.Semantic proximity Read ↗

Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa.Semantic proximity Read ↗

Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation.Semantic proximity Read ↗

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Novel mutations in FLVCR1 cause tremors, sensory neuropathy with retinitis pigmentosa.Semantic proximity Read ↗

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