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Article

Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum.

Molecular biology reports - 1 Jun 2021

Karamzade Arezou, Babaei Meisam, Saberi Mohammad, Golchin Neda, Khalil Nejad Sani Banaei Aysun, Eshaghkhani Yeganeh, Golchehre Zahra, Keramatipour Mohammad

Abstract excerpt

Joubert syndrome (JS) is a rare inherited neurodevelopmental condition characterized by hypotonia, ataxia, developmental delay, abnormal eye movements, neonatal respiratory disturbance and unique midbrain-hindbrain malformation, known as the molar tooth sign. JS is a genetically heterogeneous disorder with nearly 35 ciliary genes are implicated in its pathogenesis. AHI1 gene is one of the most frequently mutated...

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Identifiers

PMID: 34191236
DOI: 10.1007/s11033-021-06508-5

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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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