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MLPA results of Patients 1 and 2. Gene dosage of Patient 1 and Patient 2 observed by MLPA. Kit P250 (a) showed deletion of probes SNAP29, LZTR1 and HIC2 in Patient 1 and duplication of probes SNAP29 and LZTR1 in Patient 2, whereas kit P324-A1 (b) showed deletion of both LCRD probes in Patient 1 and duplication of only the proximal one in Patient 2. Data from both kits were analysed with Coffalyser v8 and v9, respectively.
