GLI2

Publications

Dubourg C et al. Holoprosencephaly. Orphanet J Rare Dis. 2007;2:8.  PMID: 17274816.

Dubourg C et al. Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway. Hum Mutat. 2016;37(12):1329–1339.  PMID: 27363716.

Mercier S et al. New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases. J Medical Genet. 2011;48(11):752–760.  PMID: 21940735.

Roessler E et al. Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. Proc Natl Acad Sci U S A. 2003;100(23):13424-9.  PMID: 14581620.

Bear KA et al. Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly. J Med Genet. 2014;51(6):413‑8.  PMID: 24744436.

Arnhold IJP et al. Role of GLI2 in hypopituitarism phenotype. J Mol Endocrinol. 2015;54(3):R141‑50.  PMID: 25878059.

Kim A et al. Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly. Brain J Neurol. 2019;142(1):35‑49.  PMID: 30508070.