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Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.
Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.
A novel SIX3 mutation segregates with holoprosencephaly in a large family.