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Intermediate autosomal recessive osteopetrosis with a large noncoding deletion in SNX10: A case report.

Sarah BaerÉlise SchaeferCaroline MichotMichel FischbachGuillaume MorelleMatthieu BendavidMartin CastelleDespina MoshousCorinne Collet
Published in: Pediatric blood & cancer (2019)
Keyphrases
  • intellectual disability
  • muscular dystrophy
  • autism spectrum disorder