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Article

A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome.

BMC medical genomics - 12 Jan 2023

Shen Yue, Lu Chao, Cheng Tingting, Cao Zongfu, Chen Cuixia, Ma Xu, Gao Huafang, Luo Minna

Abstract excerpt

BACKGROUND: KIAA0586, also known as Talpid3, plays critical roles in primary cilia formation and hedgehog signaling in humans. Variants in KIAA0586 could cause some different ciliopathies, including Joubert syndrome (JBTS), which is a clinically and genetically heterogeneous group of autosomal recessive neurological disorders. METHODS AND RESULTS: A 9-month-old girl was diagnosed as JBTS by the "molar tooth sign"...

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Identifiers

PMID: 36635699
DOI: 10.1186/s12920-023-01438-6
PMCID: PMC9838056

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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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