Ki Wook Yun Soo Ahn Chae Jung Ju Lee Sin Weon Yun Byoung Hoon Yoo In Seok Lim Eung Sang Choi Mi-Kyung Lee
10.3346/jkms.2011.26.1.146
J Korean Med Sci
2011 Jan;26(1):146-9.
atrx alpha-thalassemia hemoglobin h mental retardation, x-linked
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/21218045/
Hemoglobin H / genetics
Hemoglobin H / genetics Case Reports Amino Acid Substitution Body Dysmorphic Disorders / complications Child, Preschool DNA Mutational Analysis Epilepsy / complications Exons Humans Intellectual Disability / complications Male Mental Retardation, X-Linked / complications Mental Retardation, X-Linked / diagnosis Mental Retardation, X-Linked / genetics Point Mutation Republic of Korea alpha-Thalassemia / complications alpha-Thalassemia / diagnosis alpha-Thalassemia / genetics Hemoglobin H ATR-X syndrome
PMC3012841
21218045
The first case of X-linked Alpha-thalassemia/mental retardation (ATR-X) syndrome in Korea
2011