Chanarin-Dorfman syndrome: genotype-phenotype correlation
BG Nur, P Gencpinar, A Yuzbasıoglu, SD Emre… - European journal of …, 2015 - Elsevier
Chanarin-Dorfman syndrome is an autosomal recessive lipid storage disease characterized
by non-bullous congenital ichthyosiform erythroderma, and involvement of the liver, muscles
and central nervous system due to a multisystemic accumulation of neutral lipids in various
types of cells. Less than 100 affected individuals have been reported worldwide, the majority
from the Mediterranean and Middle-East countries, especially Turkey. We present clinical
and molecular data of four affected relatives with Chanarin-Dorfman syndrome homozygous …
by non-bullous congenital ichthyosiform erythroderma, and involvement of the liver, muscles
and central nervous system due to a multisystemic accumulation of neutral lipids in various
types of cells. Less than 100 affected individuals have been reported worldwide, the majority
from the Mediterranean and Middle-East countries, especially Turkey. We present clinical
and molecular data of four affected relatives with Chanarin-Dorfman syndrome homozygous …