Identification of a novel homozygous frameshift mutation in SLC29A3 gene in a case with H syndrome from Iran

Hypertrophic pachymeningitis as an unusual presentation of a patient with SLC29A3 spectrum disorder: Considering the use of next‐generation sequencing

“…[1][2][3] It is extremely rare, and to date approximately 100 cases have been described worldwide, with more than 22 pathogenic variants. 4,5 Due to the widespread expression of SLC29A3 throughout different tissues, pathogenic mutations lead to a spectrum of multisystemic conditions, sometimes manifesting as mitochondrial and lysosomal storage disorders. 6 However, it has been established that there is a poor genotype-phenotype correlation, and certain mutations have been correlated with multiple phenotypes.…”

“…Daniel Bustamante 2 Benjamin Carcamo 3 Steven Ross 4 Ziyad Makoshi 5 Chetan Moorthy 4 Simone M. Chang 6…”