Correlation of X chromosome inactivation with clinical presentation of Fabry disease in a case report

We present a clinical case of Fabry disease in a female with predominantly renal involvement and demonstrate how the X chromosome inactivation phenomenon is tissue dependent, showing preferential inactivation of the mutated allele at the renal level.PMID:38278716 | DOI:10.1016/j.nefroe.2024.01.018
Source: Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia - Category: Urology & Nephrology Authors: Source Type: research