Clinical and genetic characteristics of 36 children with Joubert syndrome
Background and aimsJoubert syndrome (JBTS, OMIM # 213300) is a group of ciliopathies characterized by mid-hindbrain malformation, developmental delay, hypotonia, oculomotor apraxia, and breathing abnormalities. Molar tooth sign in brain imaging is the hallmark for diagnosing JBTS. It is a clinically...
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| Principais autores: | , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2023-07-01
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| Colecção: | Frontiers in Pediatrics |
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| Acesso em linha: | https://www.frontiersin.org/articles/10.3389/fped.2023.1102639/full |
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