Expanding phenotype ofXNP mutations: Mild to moderate mental retardation-Reference-Cited by-同舟云学术

Expanding phenotype ofXNP mutations: Mild to moderate mental retardation

Published:2002-06-11 Issue:3 Volume:110 Page:243-247
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Yntema Helger G.,Poppelaars Francis A.,Derksen Esther,Oudakker Astrid R.,van Roosmalen Tanja,Jacobs Anja,Obbema Hanneke,Brunner Han G.,Hamel Ben C.J.,van Bokhoven Hans

Publisher

Wiley

Subject

Genetics (clinical)

Reference16 articles.

1. Carpenter-Waziri syndrome results from a mutation in XNP

2. Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X syndrome)

3. A nonsense mutation of theATRX gene causing mild mental retardation and epilepsy

4. Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis

5. Mutation of the XNP/ATR-X Gene in a Family with Severe Mental Retardation, Spastic Paraplegia and Skewed Pattern of X Inactivation: Demonstration that the Mutation is Involved in the Inactivation Bias

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