Fig. 2From: A novel compound heterozygous mutation of the SMARCAL1 gene leading to mild Schimke immune-osseous dysplasia: a case reportGenetic analysis of the family. Mutations analysis: the patient carries two mutations (a and b) of SMARCAL1 gene. The mother carries the c.1933C > T mutation (c and d) and the father carries the c.2450G > A mutation (e and f). Arrows indicate the position of the mutationsBack to article page