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Pedigree of the family and compound heterozygous mutations identified in two affected children. The proband and his affected younger brother shared a missense mutation (c.875 C>G:p.P292R) and a frameshift mutation (c.551delG:p.C184Sfs) in BRF1. P292R was inherited from their mother and p.C184Sfs was inherited from their father. The unaffected sister carried only C184Sfs. Filled symbols indicate an affected family member.
