Associated Papers
Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man.
Bando H et al.
Human Molecular Genetics, 2023
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
First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations.
Pasquier L et al.
Journal of Medical Genetics, 2005
Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.
Dubourg C et al.
Human Mutation, 2004
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