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Article

Growth in Joubert syndrome: Growth curves and physical measurements with correlation to genotype and hepatorenal disease in 170 individuals.

American journal of medical genetics. Part A - 1 Mar 2022

Knoll Jasmine, Altintas Burak, Gahl William A, Parisi Melissa, Gunay-Aygun Meral

Abstract excerpt

Joubert syndrome (JS) is a genetically heterogenous disorder of nonmotile cilia with a characteristic "molar tooth sign" on axial brain imaging. Clinical features can include developmental delay, kidney failure, liver disease, and retinal dystrophy. Prospective growth and measurement data on 170 individuals with JS were collected, including parental measurements, birth measurements, and serial measures when...

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Identifiers

PMID: 34951506
DOI: 10.1002/ajmg.a.62593

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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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