Article
[A novel mutation in PEX 26 gene in Zellweger syndrome: a case report].
La Tunisie medicale - 1 Mar 2011
Ben Turkia Hadhami, Yangui Mohamed, Azzouz Hatem, Ben Chehida Amal, Ben Abelaziz Rim, Abdelmoula Mohamed Slim, Nasrallah Fehmi, Kaabachi Naziha, Wanders Ronald, Tebib Neji, Ben Dridi Marie Françoise
Abstract excerpt
BACKGROUND: Zellweger syndrome is the most severe phenotype of the peroxisome biogenesis disorders caused by mutations in PEX genes. PEX 1, 6 and 26 genes are most frequently implicated. Clinical phenotype can't predict the mutated gene. AIM: To report a novel mutation in the PEX 26 gene in infant with typical Zellweger syndrome. CASE REPORT: the infant was the second child to consanguineous parents; the 1st...
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