Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis-Reference-Cited by-同舟云学术

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

Published:2019-06-17 Issue:8 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Vidal Silvia¹²,Pascual‐Alonso Ainhoa¹²,Rabaza‐Gairí Marc¹²,Gerotina Edgar¹²,Brandi Nuria³,Pacheco Paola⁴,Xiol Clara¹²,Pineda Mercè¹,Armstrong Judith²⁴⁵^ORCID,

Affiliation:

1. Sant Joan de Déu Research Foundation Barcelona Spain

2. Sant Joan de Déu Research Institute (IRSJD) Hospital Sant Joan de Déu Esplugues de Lobregat (Barcelona) Spain

3. Facultat de Medicina Universitat de Barcelona Barcelona Spain

4. Molecular and Genetics Medicine Section Hospital Sant Joan de Déu Barcelona Spain

5. CIBER‐ER (Biomedical Network Research Center for Rare Diseases) Instituto de Salud Carlos III Madrid Spain

Funder

Instituto de Salud Carlos III

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.793

Reference33 articles.

1. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

2. Mutation in the CYP21B gene (Ile‐172‐%3eAsn) causes steroid 21‐hydroxylase deficiency;Amor M.;Genetics,1988

3. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

4. The phenotype associated with a large deletion on MECP2

5. Buccal swab as a reliable predictor for X inactivation ratio in inaccessible tissues

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