IFT140 and short-rib thoracic dysplasia 9 with or without polydactyly: Individual XV.30 carried a homozygous duplication of exons 27 to 30 (c.3454-488_4182+2588dup, p.Tyr1152_Thr1394dup) in the IFT140 gene, resulting in a Saldino-Mainzer syndrome.