SLC29A3 and H syndrome: A 21-year-old girl was referred to our Institute after a genetic diagnosis of H syndrome, due to compound heterozygosity for two pathogenic variants in SLC29A3 gene (c.59_60dupCA,p.Ser21Glnfs*81, inherited from the father, not reported in online databases but resulting in destructed protein structure because of early frameshift and truncation; c.1087 C > T resulting in p.Arg363Trp, inherited from the mother, already reported as associated with H syndrome).