Associated Papers
Solitary Median Maxillary Central Incisor Syndrome: An Exploration of the Pathogenic Mechanism.
Li J et al.
Frontiers in Genetics, 2022
A novel mutation in the glucocorticoid receptor gene as a cause of severe glucocorticoid resistance complicated by hypertensive encephalopathy.
Tatsi C et al.
Journal of Hypertension, 2019
Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome.
Poelmans S et al.
American Journal of Medical Genetics. Part A, 2015
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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