Congenital ichtyosis and hetomegaly: Think about Chanarin Dorfman syndrome

Authors

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

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References

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.

Methre ST, Godbole RR, Nayar PS, Manchanda RV. Dorfman-Chanarin Syndrome: A Case Report. Indian J Hematol Blood Transfus. 2012; 28 :50-53.

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.

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Published

2015-12-02

Issue

Vol. 93 No. 7 (2015): Issue Jul 2015

Section

brief case reports