Dubourg C et al. Molecular screening of SHH, ZIC2, SIX3 and TGIF genes in patients with features of holoprosencephaly spectrum : mutation review and genotype to phenotype correlations. Hum Mutat. 2004;24(1):43-51. PMID: 15221788.
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.
Dupé V et al. NOTCH, a new signaling pathway implicated in holoprosencephaly. Hum Mol Genet. 2011;20(6):1122–1131. PMID: 21196490.
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.
Mercier S et al. New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases. J Med Genet. 2011;48(11):752–760. PMID: 21940735.
Roessler E et al. The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis. Hum Mutat. 2009;30(10):E921-935.PMID: 19603532.
Solomon BD et al. Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic hedgehog. J Med Genet. 2012;49(7):473-19. PMID: 22791840.
Traiffort E et al. Functional analysis of missense mutations in the SHH gene of patients with holoprosencephaly. J Biol Chem. 2004;279:42889-97. PMID: 15292211.