Chanarin Dorfman syndrome: a case report with novel nonsense mutation
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文摘

Chanarin Dorfman Syndrome (CDS) is an autosomal recessive rare neutral lipid metabolism disorder

It should be kept as a differential diagnosis in any patient with congenital ichthyosis with extra cutaneous signs.

Diagnosis depends on a very simple peripheral blood smear test for Jordan anomaly

Specific DNA based diagnosis is helpful in providing prenatal diagnosis in subsequent pregnancies

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