Associated Papers
Genomic architecture of fetal central nervous system anomalies using whole-genome sequencing.
Yang Y et al.
Npj Genomic Medicine, 2022
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
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
Select a paper to view details