- A Novel Hemizygous I418S Mutation in the ALAS2 Gene in a Young Korean Man with X-Linked Sideroblastic Anemia
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Moon SY, Jun IJ, Kim JE, Lee SJ, Kim HK, Yoon SS
- KMID: 1791912
- Ann Lab Med.
- 2014 Mar;34(2):159-162.
- doi: 10.3343/alm.2014.34.2.159
No abstract available. -
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- 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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- X-Linked Spondyloepiphyseal Dysplasia Tarda: Identification of a TRAPPC2 Mutation in a Korean Pedigree
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Ryu H, Park J, Chae H, Kim M, Kim Y, Ok IY
- KMID: 1381692
- Ann Lab Med.
- 2012 May;32(3):234-237.
- doi: 10.3343/alm.2012.32.3.234
Spondyloepiphyseal dysplasia (SED) comprises a heterogeneous group of skeletal dysplasias that primarily affect the epiphyses and vertebral bodies. Patients affected by SED usually exhibit short stature and experience early development... -
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