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- Monozygotic twins with de novo ZIC2 gene mutations discordant for the type of holoprosencephaly
- Teaching NeuroImages: Syntelencephaly: Middle interhemispheric fusion
- New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases
- Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals
- Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function
- Mutations in the BMP pathway in mice support the existence of two molecular classes of holoprosencephaly
- Central Roles of the Roof Plate in Telencephalic Development and Holoprosencephaly
- Middle interhemispheric variant of holoprosencephaly: A very mild clinical case
- Middle interhemispheric variant of holoprosencephaly: A distinct cliniconeuroradiologic subtype
- Coexistent Holoprosencephaly and Chiari II Malformation