Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis

ConclusionThese molecular data together with the clinical information enable us to propose a genotype –phenotype correlation, which is essential for providing genetic counseling.

Source: Molecular Genetics & Genomic Medicine - June 16, 2019 Category: Genetics & Stem Cells Authors: Silvia Vidal, Ainhoa Pascual ‐Alonso, Marc Rabaza‐Gairí, Edgar Gerotina, Nuria Brandi, Paola Pacheco, Clara Xiol, Mercè Pineda, Rett Working Group, Judith Armstrong Tags: ORIGINAL ARTICLE Source Type: research