Joubert syndrome: a case report of neonatal presentation and early diagnosis
Background: Joubert syndrome is a rare genetic condition with a prevalence of 1:80,000-1:100,000. In most cases, it shows an autosomal autosomal recessive hereditary pattern, although X-linked and autosomal dominant cases have been described. The distinctive characteristic of this syndrome is the ma...
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| Main Authors: | , , , , |
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| Format: | Book |
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Permanyer,
2023-01-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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