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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Main Authors: Craig, David W., Itty, Abraham, Panganiban, Corrie, Szelinger, Szabolcs, Kruer, Michael C., Sekar, Aswin, Reiman, David, Narayanan, Vinodh, Stephan, Dietrich A., Kerrigan, John F.
Formato: Artigo
Idioma:Inglês
Publicado: American Society of Human Genetics 2008
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Article
Acceso en liña: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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