Report of a novel missense mutation in the MECP2 gene in a middle‐aged man with intellectual disability syndrome-Reference-Cited by-同舟云学术

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Report of a novel missense mutation in the MECP2 gene in a middle‐aged man with intellectual disability syndrome

Published:2021-08 Issue:8 Volume:9 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Arvio Maria¹²³⁴^ORCID,Haanpää Maria⁵⁶^ORCID,Pohjola Pia⁵,Lähdetie Jaana⁴

Affiliation:

1. Neurology Päijät‐Häme Joint Municipal Authority Lahti Finland

2. PEDEGO Oulu University Hospital Oulu Finland

3. Southwest Special Care Municipal Authority Paimio Finland

4. Department of Child Neurology Turku University Hospital Turku Finland

5. Department of Genomics Turku University Hospital Turku Finland

6. Turku University Turku Finland

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.4602

Reference19 articles.

1. Rett Syndrome: A Genetic Update and Clinical Review Focusing on Comorbidities

2. X-linked intellectual disability update 2017

3. Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure

4. A Mutation Hot Spot for Nonspecific X-Linked Mental Retardation in the MECP2 Gene Causes the PPM-X Syndrome

5. Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2)

Cited by 1 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. Síndrome de Rett en un lactante varón con variante patogénica en MECP2;Revista Mexicana de Pediatría;2023

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