Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant-Reference-Cited by-同舟云学术

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Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant

Published:2020-01-13 Issue:3 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Takahashi Satoru¹^ORCID,Takeguchi Ryo¹,Kuroda Mami¹,Tanaka Ryosuke¹

Affiliation:

1. Department of Pediatrics Asahikawa Medical University Hokkaido Japan

Funder

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1122

Reference13 articles.

1. Updating the profile of C-terminal MECP2 deletions in Rett syndrome

2. Methyl-CpG-binding protein 2(MECP2) mutation type is associated with disease severity in Rett syndrome

3. Preserved speech variant is allelic of classic Rett syndrome

4. Revealing the Complexity of a Monogenic Disease: Rett Syndrome Exome Sequencing

5. Rett syndrome in a 47,XXX patient with a de novoMECP2 mutation

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Goltz Syndrome Combined with Triple X Syndrome, a Case Report;The Cleft Palate-Craniofacial Journal;2022-11-28

2. Sleep Disorders in Rett Syndrome and Rett-Related Disorders: A Narrative Review;Frontiers in Neurology;2022-03-01

3. The comorbidity landscape of 47,XXX syndrome: A nationwide epidemiologic study;Genetics in Medicine;2022-02

4. Role of DNA Methyl-CpG-Binding Protein MeCP2 in Rett Syndrome Pathobiology and Mechanism of Disease;Biomolecules;2021-01-08

5. Advances in understanding of Rett syndrome and MECP2 duplication syndrome: prospects for future therapies;The Lancet Neurology;2020-08

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