- The First Case of X-linked Alpha-thalassemia/Mental Retardation (ATR-X) Syndrome in Korea
-
Yun KW, Chae SA, Lee JJ, Yun SW, Yoo BH, Lim IS, Choi ES, Lee MK
- KMID: 1777991
- J Korean Med Sci.
- 2011 Jan;26(1):146-149.
- doi: 10.3346/jkms.2011.26.1.146
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... -
- CITED
-
- Close
- SHARE
-
- Close
- Congenital insensitivity to pain with anhidrosis: a case report
-
Kim JS, Woo YJ, Kim GM, Kim CJ, Ma JS, Hwang TJ, Lee MC
- KMID: 1731324
- J Korean Med Sci.
- 1999 Aug;14(4):460-464.
- doi: 10.3346/jkms.1999.14.4.460
Congenital insensitivity to pain with anhidrosis (CIPA) is a very rare genetic disorder of the peripheral nervous system characterized by recurrent episodes of unexplained fever, generalized anhidrosis, insensitivity to pain... -
- CITED
-
- Close
- SHARE
-
- Close
- Bilateral Congenital Anophthalmos and Agenesis of the Optic Pathways
-
Aktekin M, Oz O, Saygili MR, Kurtoglu Z
- KMID: 1734059
- Yonsei Med J.
- 2005 Apr;46(2):296-299.
- doi: 10.3349/ymj.2005.46.2.296
This report presents a rare example of a bilateral congenital anophthalmos and an agenesis of the optic pathways. The MR imaging studies revealed that the eyeballs, optic nerves, optic chiasm,... -
- CITED
-
- Close
- SHARE
-
- Close
