Associated Papers
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.
Lacbawan F et al.
Journal of Medical Genetics, 2009
Mutations in the human SIX3 gene in holoprosencephaly are loss of function.
Domené S et al.
Human Molecular Genetics, 2008
Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts.
Haas D et al.
Journal of Medical Genetics, 2007
Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: interaction with the nuclear receptor NR4A3/NOR1.
Laflamme C et al.
Human Mutation, 2004
Six family genes--structure and function as transcription factors and their roles in development.
Kawakami K et al.
Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2000
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.
Wallis DE et al.
Nature Genetics, 1999
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