Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14
Abstract In a multi-branch family from Pakistan, individuals presenting with palmoplantar keratoderma segregate in animed aniflex complete autosomal dominant fashion, and individuals with intellectual disability (ID) segregate in apparent autosomal recessive fashion.Initial attempts to identify the ID locus using homozygosity-by-descent (HBD) mappi