Associated Papers
Prenatal Diagnosis by Trio Clinical Exome Sequencing: Single Center Experience.
Margiotti K et al.
Current Issues in Molecular Biology, 2024
Low-level parental mosaicism affects the recurrence risk of holoprosencephaly.
Hu P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.
Hehr U et al.
Human Genetics, 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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