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

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

Abstract Background Rett syndrome (RTT) is a developmental disorder with an early onset and X‐linked dominant inheritance pattern. It is first recognized in infancy and is seen almost always in girls, but it may be seen in boys on rare occasions. Typical RTT is caused by de novo mutations of the gen...

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Main Authors: Silvia Vidal, Ainhoa Pascual‐Alonso, Marc Rabaza‐Gairí, Edgar Gerotina, Nuria Brandi, Paola Pacheco, Clara Xiol, Mercè Pineda, Rett Working Group, Judith Armstrong
Format: Article
Language:English
Published: Wiley 2019-08-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
large deletions
MECP2
Phenotype‐genotype correlations
Rett syndrome
Online Access:https://doi.org/10.1002/mgg3.793

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