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Article

Defective ciliogenesis in INPP5E-related Joubert syndrome.

American journal of medical genetics. Part A - 1 Dec 2017

Hardee Isabel, Soldatos Ariane, Davids Mariska, Vilboux Thierry, Toro Camilo, David Karen L, Ferreira Carlos R, Nehrebecky Michele, Snow Joseph, Thurm Audrey, Heller Theo, Macnamara Ellen F, Gunay-Aygun Meral, Zein Wadih M, Gahl William A, Malicdan May Christine V

Abstract excerpt

Joubert syndrome is a neurodevelopmental disorder, characterized by malformation of the mid and hindbrain leading to the pathognomonic molar tooth appearance of the brainstem and cerebellum on axial MRI. Core clinical manifestations include hypotonia, tachypnea/apnea, ataxia, ocular motor apraxia, and developmental delay of varying degrees. In addition, a subset of patients has retinal dystrophy, chorioretinal...

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Identifiers

PMID: 29052317
DOI: 10.1002/ajmg.a.38376
PMCID: PMC5685896

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Defective ciliogenesis in INPP5E-related Joubert syndrome.PMID 29052317Read ↗

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The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneitySemantic proximity Read ↗

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