- X-linked Opitz G/BBB Syndrome: Identification of a Novel Mutation and Prenatal Diagnosis in a Korean Family
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Cho HJ, Shin MY, Ahn KM, Lee SI, Kim HJ, Ki CS, Kim JW
- KMID: 1781893
- J Korean Med Sci.
- 2006 Oct;21(5):790-793.
- doi: 10.3346/jkms.2006.21.5.790
X-linked Opitz G/BBB syndrome (XLOS; MIM 300000) is a rare multiple congenital anomaly disorder that is characterized by facial anomalies, laryngeal/tracheal/esophageal defects and genitourinary abnormalities. XLOS is caused by mutations... -
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- Bilateral Congenital Anophthalmos and Agenesis of the Optic Pathways
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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,... -
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- The First Korean Case of Beare-Stevenson Syndrome with a Tyr375Cys Mutation in the Fibroblast Growth Factor Receptor 2 Gene
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Eun SH, Ha KS, Je BK, Lee ES, Choi BM, Lee JH, Eun BL, Yoo KH
- KMID: 1713200
- J Korean Med Sci.
- 2007 Apr;22(2):352-356.
- doi: 10.3346/jkms.2007.22.2.352
Here we report the first case of a Korean infant with a cloverleaf-shaped craniosynostosis, in which the diagnosis of Beare-Stevenson syndrome was suspected upon observation of the typical morphological features.... -
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- A Case of Pseudoisodicentric Chromosome 18q Detected at Prenatal Diagnosis
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Cho SY, Lim G, Kim SY, Kim MJ, Lee KA, Choi JR, Lee HJ, Suh JT, Park TS, Jung E
- KMID: 1781652
- Korean J Lab Med.
- 2010 Aug;30(4):440-443.
- doi: 10.3343/kjlm.2010.30.4.440
Although trisomy 18 (Edwards' syndrome) or the terminal deletion syndromes of 18p and 18q have been occasionally detected, pseudoisodicentric chromosome 18 is a very rare constitutional chromosomal abnormality. We describe... -
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- A de novo Microdeletion of ANKRD11 Gene in a Korean Patient with KBG Syndrome
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Lim JH, Seo EJ, Kim YM, Cho HJ, Lee JO, Cheon CK, Yoo HW
- KMID: 1791956
- Ann Lab Med.
- 2014 Sep;34(5):390-394.
- doi: 10.3343/alm.2014.34.5.390
KBG syndrome is a very rare genetic disorder characterized by macrodontia of upper central incisors, global developmental delay, distinctive craniofacial features, short stature, and skeletal anomalies. Ankyrin repeat domain 11... -
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