Skip to main content
Fig. 2 | BMC Pediatrics

Fig. 2

From: Mutations in both SAMD9 and SLC19A2 genes caused complex phenotypes characterized by recurrent infection, dysphagia and profound deafness – a case report for dual diagnosis

Fig. 2

Pedigree and verification of the de novo variation in SAMD 9 in the family. a The proband has a heterozygote variant but the parents not. b Pedigree of the patient is shown with SAMD9 / SLC19A2 genotype information. Black square indicates the patient affected by MIRAGE syndrome caused by a de novo variant in SAMD9. Rhombus indicate stillbirth. NA denotes genotype not available. Square filled with dots indicates the proband suffered from TRAM syndrome. The compound heterozygote found in the patient was carried by father and mother respectively

Back to article page

BMC Pediatrics

ISSN: 1471-2431

Contact us