- Langer-Giedion Syndrome with 8q23.1–q24.13 Deletion by Complex Three-way Translocation
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Min S, Seo EJ, Seol CA, Kim GH, Lee BH, Lee DH
- KMID: 2398417
- Lab Med Online.
- 2018 Jan;8(1):29-33.
- doi: 10.3343/lmo.2018.8.1.29
Langer-Giedion syndrome is a very rare genetic disorder that is caused by the deletion on chromosome 8q24.1, encompassing the TRPS1 and EXT1 genes. We describe a 5-month-old female patient who... -
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- A Case of Langer-Giedion Syndrome with a De Novo Del(8)(q23q24.1)
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Lee JM, Lee SB, Lee SW, Shim SY, Cho SJ, Park EA, Huh JW
- KMID: 2052170
- Neonatal Med.
- 2015 May;22(2):112-116.
- doi: 10.5385/nm.2015.22.2.112
Lange-Giedion syndrome, or trichorhinophalangeal syndrome type 2 (TRPSII), is a clinical syndrome characterized by mild growth restriction, mental retardation, microcephaly and dysmorphic face. Bulbous nose, large protruding ears and loose... -
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