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Article

IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: A new association.

European journal of medical genetics - 1 Dec 2020

Montolío-Marzo Santiago, Català-Mora Jaume, Madrid-Aris Álvaro, Armstrong Judith, Díaz-Carcajosa Jesús, Carreras Elisa

Abstract excerpt

Ciliopathies are a wide and heterogeneous group of diseases affecting intraflagellar transport. Among them, Mainzer-Saldino syndrome (MSS) shows phalangeal cone-shaped epiphysis, renal disease and retinal involvement. Short stature, cerebellar ataxia and hepatic fibrosis might also be found. IFT140 is the most commonly reported mutation in MSS. We will report on the case of a patient with a clinical diagnosis of...

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Identifiers

PMID: 33002628
DOI: 10.1016/j.ejmg.2020.104073

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: A new association.PMID 33002628Read ↗

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