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Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly.

Ange-Line BruelJulien ThevenonF HuetN Jean-MarcaisS OdentC DubourgD LehalleF Tran Mau-ThemC PhilippeS MouttonN HoucinatS GayL GuibaudY DuffourdJ-B RivièreL FaivreC Thauvin-Robinet
Published in: Clinical genetics (2018)
Keyphrases
  • intellectual disability
  • autism spectrum disorder
  • early onset