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Biallelic exostosin‐2 (EXT2) pathogenic variants have been described as the cause of the Seizures‐Scoliosis‐Macrocephaly syndrome (OMIM 616682) characterized by intellectual disability, facial dysmorphisms and seizures. More recently, it has been proposed to rename this disorder with the acronym AREXT2 (autosomal recessive EXT2‐related syndrome). Here, we report the third family affected by AREXT2...
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