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Joubert syndrome in a neonate: case report with literature review

Joubert syndrome is a rare autosomal recessive disorder. It is characterized by congenital ataxia, hypotonia, developmental delay and at least one of the following features: neonatal respiratory disturbances and abnormal eye movements; including nystagmus and oculomotor apraxia. Molar tooth appearan...

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Bibliographische Detailangaben
Veröffentlicht in:Sudan J Paediatr
Hauptverfasser: Bin Dahman, Haifa A, Bin Mubaireek, Abdul-Hakeem M, Alhaddad, Zain H
Format: Artigo
Sprache:Inglês
Veröffentlicht: Sudanese Association of Pediatricians 2016
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5025933/
https://ncbi.nlm.nih.gov/pubmed/27651554
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