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Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients

โœ Scribed by van den Ouweland, Ans M W; Elfferich, Peter; Zonnenberg, Bernard A; Arts, Willem F; Kleefstra, Tjitske; Nellist, Mark D; Millan, Jose M; Withagen-Hermans, Caroline; Maat-Kievit, Anneke J A; Halley, Dicky J J


Book ID
109849259
Publisher
Nature Publishing Group
Year
2010
Tongue
English
Weight
546 KB
Volume
19
Category
Article
ISSN
1018-4813

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Chordomas are rare sacrococcygeal/sacral, sphenooccipital/clivus, and spinal tumors whose molecular etiology remains relatively understudied. As several anecdotal reports had described chordomas in individuals with tuberous sclerosis complex (TSC), a multisystem hamartoma syndrome, we hypothesized t