Journal
JOURNAL OF MEDICAL GENETICS
Volume 43, Issue 6, Pages 465-469Publisher
BMJ PUBLISHING GROUP
DOI: 10.1136/jmg.2004.029181
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Funding
- NATIONAL HUMAN GENOME RESEARCH INSTITUTE [ZIAHG200328, Z01HG200328] Funding Source: NIH RePORTER
- Intramural NIH HHS Funding Source: Medline
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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.
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