Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked α-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X-Reference-Cited by-同舟云学术

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Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked α-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X

Published:2005 Issue:1 Volume:138A Page:18-20
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Wada Takahito,Sugie Hideo,Fukushima Yoshimitsu,Saitoh Shinji

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference17 articles.

1. Mutation in the 5′ alternatively spliced region of the XNP/ATR-X gene causes Chudley–Lowry syndrome

2. Germline and gonosomal mosaicism in the ATR-X syndrome

3. . 2004. ATRX and the X-linked a-Thalassemia Mental Retardation Syndrome. In: , , editors. Inborn errors of development. Oxford: Oxford University Press. pp 747-757.

Cited by 18 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. Identification of a pathogenic deep intronic variant in ATRX ends a diagnostic odyssey;European Journal of Medical Genetics;2024-06

2. Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New Insights;Genes;2022-10-04

3. X-Linked CNV in Pathogenetics of Intellectual Disability;Russian Journal of Genetics;2022-10

4. ATR-X syndrome: genetics, clinical spectrum, and management;Human Genetics;2021-09-15

5. The Impact of X-Chromosome Inactivation on Phenotypic Expression of X-Linked Neurodevelopmental Disorders;Brain Sciences;2021-07-09

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