A case of probable Bohring-Opitz syndrome with medulloblastoma
- PMID: 20717007
- DOI: 10.1097/MCD.0b013e32833e07de
A case of probable Bohring-Opitz syndrome with medulloblastoma
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References
-
- Bohring A, Silengo M, Lerone M, Superneau DW, Spaich C, Braddock SR, et al. 1999. Severe end of opitz trigonocephaly (C) syndrome or new syndrome? Am J Med Genet 85:438–446.
-
- Omran H, Hildebrandt F, Korinthenberg R, Brandis M 1997. Probable opitz trigonocephaly C syndrome with medulloblastoma. Am J Med Genet 69:395–399.
-
- Opitz JM, Johnson RC, McCreadie SR, Smith DW 1969. The C syndrome of multiple congenital anomalies. Birth Defects 2:161–166.
-
- Oslejskova H, Horinova V, Sterba J, Pavelka Z, Babovic-Vuksanovic D, Dubska L, Valik D 2008. Malignant intracranial germinoma in Smith-Lemli-Opitz syndrome: cholesterol homeostasis possibly connecting morphogenesis and cancer development. J Pediatr Hematol Oncol 30:641–642.
-
- Wendler F, Franch-Marro X, Vincent JP 2006. How does cholesterol affect the way Hedgehog works? Development 133:3055–3061.
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