PartialATRXgene duplication causes ATR-X syndrome-Reference-Cited by-同舟云学术

PartialATRXgene duplication causes ATR-X syndrome

Published:2009-10 Issue:10 Volume:149A Page:2317-2320
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Cohn Dianne M.,Pagon Roberta A.,Hudgins Louanne,Schwartz Charles E.,Stevenson Roger E.,Friez Michael J.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference7 articles.

1. Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28;Friez;Pediatrics,2006

2. Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome);Gibbons;Cell,1995

3. Mutations in the chromatin-associated protein ATRX;Gibbons;Hum Mutat,2008

4. Stevenson RE. 2007. Alpha-thalassemia X-linked mental retardation syndrome. GeneReviews: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=xlmr.

5. Partial duplications of the ATRX gene cause the ATR-X syndrome;Thienpont;Eur J Hum Genet,2007

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1. Integrated omics analyses clarifies ATRX copy number variant of uncertain significance;Journal of Human Genetics;2023-10-31

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

3. ATR‐X;Cassidy and Allanson's Management of Genetic Syndromes;2020-10-30

4. Nonneoplastic Diseases of the Testis;Urologic Surgical Pathology;2020

5. Molecular genetic characterization of a prenatally detected 1.484-Mb Xq13.3-q21.1 duplication encompassing ATRX and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1;Taiwanese Journal of Obstetrics and Gynecology;2017-06