Identification of Somatic Chromosomal Abnormalities in Hypothalamic Hamartoma Tissue at the GLI3 Locus

Hypothalamic hamartomas (HH) are rare, benign congenital tumors associated with intractable epilepsy. Most cases are sporadic and nonsyndromic. Approximately 5% of HH cases are associated with Pallister-Hall syndrome (PHS), which is caused by haploinsufficiency of GLI3. We have investigated the poss...

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Hlavní autoři: Craig, David W., Itty, Abraham, Panganiban, Corrie, Szelinger, Szabolcs, Kruer, Michael C., Sekar, Aswin, Reiman, David, Narayanan, Vinodh, Stephan, Dietrich A., Kerrigan, John F.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Human Genetics 2008
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2427231/
https://ncbi.nlm.nih.gov/pubmed/18252217
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2007.10.006
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