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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Craig, David W., Itty, Abraham, Panganiban, Corrie, Szelinger, Szabolcs, Kruer, Michael C., Sekar, Aswin, Reiman, David, Narayanan, Vinodh, Stephan, Dietrich A., Kerrigan, John F.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: American Society of Human Genetics 2008
Pynciau:
Article
Mynediad Ar-lein: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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