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Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.

L M BoydenB G CraiglowR H HuJ ZhouJ BrowningL EichenfieldY L LimM LuuL M RandolphM GinarteL FachalL Rodriguez-PazosA VegaD KramerG YosipovitchH VahidnezhadL YoussefianJouni UittoR P LiftonA S PallerL M MilstoneKeith A Choate
Published in: The British journal of dermatology (2017)
Keyphrases
  • intellectual disability
  • muscular dystrophy
  • autism spectrum disorder