The First Case of X-linked Alpha-thalassemia/Mental Retardation (ATR-X) Syndrome in Korea

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 showed dysmorphic...

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Bibliografske podrobnosti
Main Authors: Yun, Ki Wook, Chae, Soo Ahn, Lee, Jung Ju, Yun, Sin Weon, Yoo, Byoung Hoon, Lim, In Seok, Choi, Eung Sang, Lee, Mi-Kyung
Format: Artigo
Jezik:Inglês
Izdano: The Korean Academy of Medical Sciences 2011
Teme:
Case Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3012841/
https://ncbi.nlm.nih.gov/pubmed/21218045
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2011.26.1.146
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