Hearing Loss Is Part of the Clinical Picture of ENPP1 Loss of Function Mutation

@article{Brachet2013HearingLI,
  title={Hearing Loss Is Part of the Clinical Picture of ENPP1 Loss of Function Mutation},
  author={C{\'e}cile Brachet and Anne Laure Mansbach and A. Clerckx and Pierre Deltenre and Claudine Heinrichs},
  journal={Hormone Research in Paediatrics},
  year={2013},
  volume={81},
  pages={63 - 66}
}
Background: Ecto/nucleotide pyrophosphatase/phosphodiesterase-1 (ENPP1) loss-of-function mutations have been described in patients with autosomal recessive hypophosphatemic rickets (HR), in patients with generalized arterial calcification of infancy (GACI) and in several patients with both conditions. Out of more than 50 cases of homozygous or compound heterozygous ENPP1 loss-of-function mutations published so far, 1 case with labyrinthine deafness probably due to occlusion of inner ear… 

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