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Article

A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy.

European journal of medical genetics - 1 Apr 2020

Faudi Emilien, Brischoux-Boucher Elise, Huber Céline, Dabudyk Thibaud, Lenoir Marion, Baujat Geneviève, Michot Caroline, Van Maldergem Lionel, Cormier-Daire Valérie, Piard Juliette

Abstract excerpt

A narrow thorax with shortening of long bones is usually pointing to dysfunction of the primary cilia corresponding clinically to ciliopathies with major skeletal involvement. Mutations in at least 23 genes are likely to correspond to this clinical presentation: IFT43/52/80/81/122/140/172, WDR19/34/35/60, DYNC2H1, DYNC2LI1, CEP120, NEK1, TTC21B, TCTEX1D2, INTU, TCTN3, EVC 1/2 and KIAA0586. In addition to these,...

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Identifiers

PMID: 31816441
DOI: 10.1016/j.ejmg.2019.103823

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy.PMID 31816441Read ↗

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Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic DystrophySemantic proximity Read ↗

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