Associated Papers
Further evidence for complex inheritance of holoprosencephaly: Lessons learned from pre- and postnatal diagnostic testing in Germany.
Hinreiner S et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2018
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
Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein.
Jeong Y et al.
Nature Genetics, 2008
Haploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephaly.
Geng X et al.
Developmental Cell, 2008
Single median maxillary central incisor: new data and mutation review.
El-Jaick KB et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2007
Homeodomain revisited: a lesson from disease-causing mutations.
Chi YI
Human Genetics, 2005
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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