A Unique Mechanism of a Novel Synonymous PHEX Variant Causing X-Linked Hypophosphatemia.

Kheloud M AlhamoudiBalgees AlghamdiMeshael AlswailemAbdul NasirAbeer AljomaiahHindi Al-HindiAli S Alzahrani

Published in: The Journal of clinical endocrinology and metabolism (2022)

This novel variant shows how a synonymous exonic mutation may induce a complex series of changes in the transcription and translation of the gene and causes a disease, a mechanism that is not commonly recognized.

Keyphrases

genome wide
copy number
dna methylation