Associated Papers
New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly.
de Castro VF et al.
Molecular Syndromology, 2021
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.
Paulussen AD et al.
European Journal of Human Genetics : Ejhg, 2010
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
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