Novel variants and uncommon cases among southern Chinese children with X-linked hypophosphatemia

ConclusionThis study extends the mutational spectrum of thePHEX gene, which will contribute to accurate diagnosis. This study also suggests a supplementary qPCR or MLPA assay may be performed along with classical sequencing to confirm the gross insertion/deletion.
Source: Journal of Endocrinological Investigation - Category: Endocrinology Source Type: research