Congenital ichtyosis and hetomegaly: Think about Chanarin Dorfman syndrome

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Published Dec 2, 2015
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Vol. 93 No. 7 (2015): Issue Jul 2015

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Salma Ben Ameur
hajer Aloulou
Manel Wali
Sofiène Alibi
Mourad Chaari
Choumous Kallel
Thouraya Kamoun
Mongia Hachicha

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References

  1. Redaelli et al. Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene. Orphanet J Rare Dis. 2010; 1 :5-33.
  2. Methre ST, Godbole RR, Nayar PS, Manchanda RV. Dorfman-Chanarin Syndrome: A Case Report. Indian J Hematol Blood Transfus. 2012; 28 :50-53.
  3. Cakmak E, Alagozlu H, Yonem O, Ataseven H, Citli S, Ozer H. Steatohepatitis and liver cirrhosis in Chanarin-Dorfman syndrome with a new ABDH5 mutation. Clin Res Hepatol Gastroenterol. 2012 ;36 : 34-7.