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J Med Genet. 2006 Jun;43(6):465-9.

What you can learn from one gene: GLI3.

Author information

1
National Human Genome Research Institute, 49 Convent Drive Room 4A80, Bethesda, MD 20892-4472, USA. leslieb@helix.nih.gov

Abstract

The study of patients with rare multiple congenital anomaly syndromes can provide illuminating insights into normal development and the pathogenesis of congenital anomalies. The GLI3 gene is a particularly good example as it illuminates the phenomena of pleiotropy, phenocopies, syndrome families, and evolutionary conservation of pathogenesis, and raises questions about how diagnoses are conceptualised. These topics are reviewed in turn, in the context of the clinical and biological data derived from patients with mutations in GLI3 and experimental work in model systems.

PMID:
16740916
PMCID:
PMC2564530
DOI:
10.1136/jmg.2004.029181
[Indexed for MEDLINE]
Free PMC Article
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