Recessive mutation in GALNT3 causes hyperphosphatemic familial tumoral calcinosis associated with chronic recurrent multifocal osteomyelitis.

We describe here an 11-year-old child who was diagnosed with these two conditions and was found to carry a splice site mutation c.1524+1G > A in the GALNT3 gene.
PMID: 31559735 [PubMed - in process]

Source: The Turkish Journal of Pediatrics - September 29, 2019 Category: Pediatrics Authors: Albaramki J, Dmour H, Shboul M, Bonnard C, Venkatesh B, Odeh R Tags: Turk J Pediatr Source Type: research