A new GNPAT variant of foetal rhizomelic chondrodysplasia punctata

ConclusionThe role of mutation in theGNPAT suggests a likely association with the clinical phenotype.

Source: Molecular Genetics & Genomic Medicine - June 10, 2021 Category: Genetics & Stem Cells Authors: Adalgisa Cordisco, Elisabetta Pelo, Mariarosaria Di Tommaso, Roberto Biagiotti Tags: CLINICAL REPORT Source Type: research