Homozygous pArg610del Mutation Unusually Associated With Severe Delay of Growth in 2 Acid Sphingomyelinase Deficiency–affected Sibs

Conclusions: There is no correlation between phenotype-genotype in case of p.Arg610del mutation that could be associated to a severe delay of growth.
Source: Journal of Pediatric Hematology Oncology - Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research