Article
Naxos disease in an Arab family is not caused by the Pk2157del2 mutation. Evidence for exclusion of the plakoglobin gene.
Saudi medical journal - 1 Oct 2004
Stuhrmann Manfred, Bukhari Iqbal A, El-Harith El-Harith A
Abstract excerpt
OBJECTIVE: Naxos disease is a rare hereditary disorder characterized by palmoplantar keratoderma, woolly hair and cardiomyopathy. This study aims to determine whether Naxos disease in a Saudi Arab family is caused by the Pk2157del2 mutation that was identified in Greek families from Naxos Island where the disease had originally been described. METHODS: This study was undertaken at King Fahad Hospital of the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.