Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co ‐inheritance

ConclusionThis study describes the phenotype associated with a heterozygous loss of function variant inARX. Moreover, it highlights the importance of investigating both chromosomal and genetic contributions in cases of complex syndromic phenotypes involving CNS.

Source: Molecular Genetics & Genomic Medicine - June 9, 2020 Category: Genetics & Stem Cells Authors: Alice Traversa, Enrica Marchionni, Agnese Giovannetti, Maria L. Genovesi, Noemi Panzironi, Katia Margiotti, Giulia Napoli, Francesca Piceci Sparascio, Alessandro De Luca, Francesco Petrizzelli, Massimo Carella, Francesco Cardona, Silvia Bernar Tags: CLINICAL REPORT Source Type: research