Article

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

2022-09-08

Abstract excerpt

<h4>Background: </h4> KIAA0586 , also known as Talplid3 , 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. <h4>Methods and Results: </h4> A 9-month-old girl was diagnosed as JBTS by...

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Literature Corpus work: 1c7f0e94-02b5-5b3f-a869-41b168118908
DOI: 10.21203/rs.3.rs-2012528/v1

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