Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.

@article{Fachal2014IdentificationOA,
  title={Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.},
  author={Laura Fachal and Laura Rodr{\'i}guez-Pazos and Manuel Ginarte and Angel Carracedo and Jaime Toribio and Ana Mar{\'i}n Vega},
  journal={The British journal of dermatology},
  year={2014},
  volume={170 4},
  pages={980-2}
}
DEAR EDITOR, The term inherited ichthyosis subsumes numerous clinically and aetiologically heterogeneous cornification disorders with Mendelian inheritance patterns. Prior to January 2012, six genes had been identified as having loss-of-function mutations causing autosomal recessive congenital ichthyosis (ARCI): ABCA12, ALOX12B, ALOXE3, CYP4F22, NIPAL4 and TGM1. In a study of ALOX12B, ALOXE3, CYP4F22, NIPAL4 and TGM1 performed in 17 ARCI families in Galicia (NW 

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