ATR-X Syndrome

Common Name(s)

ATR-X Syndrome

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "ATR-X Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "ATR-X Syndrome" returned 13 free, full-text research articles on human participants. First 3 results:

ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31).
 

Author(s): Seema Thakur, Mala Ishrie, Renu Saxena, Sumita Danda, Rose Linda, Auro Viswabandya, I C Verma

Journal: Indian J. Med. Res.. 2011 Oct;134():483-6.

 

ATR-X syndrome is an X-linked mental retardation syndrome characterized by mental retardation, alpha thalassaemia and distinct facial features which include microcephaly, frontal hair upsweep, epicanthic folds, small triangular nose, midface hypoplasia and carp-shaped mouth. Here ...

Last Updated: 17 Nov 2011

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The first case of X-linked Alpha-thalassemia/mental retardation (ATR-X) syndrome in Korea.
 

Author(s): Ki Wook Yun, Soo Ahn Chae, Jung Ju Lee, Sin Weon Yun, Byoung Hoon Yoo, In Seok Lim, Eung Sang Choi, Mi-Kyung Lee

Journal: J. Korean Med. Sci.. 2011 Jan;26(1):146-9.

 

Mutation of the ATRX gene leads to X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome and several other X-linked mental retardation syndromes. We report the first case of ATR-X syndrome documented here in Korea. A 32-month-old boy came in with irritability and fever. He ...

Last Updated: 10 Jan 2011

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[Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues].
 

Author(s): Krzysztof SzczaƂuba, Ewa Obersztyn, Beata Nowakowska, Joanna Bernaciak, Christopher Fisher, Richard Gibbons, Tadeusz Mazurczak, Ewa Bocian

Journal: Med Wieku Rozwoj. ;15(4):437-44.

 

Alpha-thalassemia/mental retardation syndrome (ATR-X) is a neurodevelopmental disorder with characteristic clinical picture as well as presence of pathognomonic haemoglobin H inclusions (HbH) on peripheral blood examination. Typical features of this condition are: severe intellectual ...

Last Updated: 20 Apr 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "ATR-X Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.