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Article

Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus.

American journal of human genetics - 1 Feb 2008

Craig David W, Itty Abraham, Panganiban Corrie, Szelinger Szabolcs, Kruer Michael C, Sekar Aswin, Reiman David, Narayanan Vinodh, Stephan Dietrich A, Kerrigan John F

Abstract excerpt

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 possibility that HH pathogenesis in sporadic cases is due to a somatic (tumor-only) mutation in GLI3. We isolated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 18252217
DOI: 10.1016/j.ajhg.2007.10.006
PMCID: PMC2427231

Genes

GLI3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus.PMID 18252217Read ↗

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Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributionsSemantic proximity Read ↗

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Gene symbol: GLI3. Disease: Pallister-Hall syndrome.Semantic proximity Read ↗

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