Fig. 1: Clinical and genetic features of the patient.
From: MIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in the SAMD9 gene
a, b Photographs of the patient at birth showing ambiguous genitalia (a) and hyperpigmentation (b). c Growth chart of the patient from 0 to 2 years old19. The red circle and square represent the patient’s height and weight, respectively. d Sanger sequences of the SAMD9 gene in the patient and parents. A heterozygous de novo variant (c.4435 G > T; p.Ala1479Ser) was found in the patient. e Homologs of the SAMD9 gene at the A1479 residue, which is conserved across multiple species.
