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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Permanyer
2023-01-01
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| Series: | Boletín Médico del Hospital Infantil de México |
| Subjects: | |
| Online Access: | https://www.bmhim.com/frame_esp.php?id=376 |