Associated Papers
Case report: a novel mutation in ZIC2 in an infant with microcephaly, holoprosencephaly, and arachnoid cyst.
Xiong J et al.
Medicine, 2019
Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing.
Mouden C et al.
Clinical Genetics, 2016
Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2.
Wannasilp N et al.
American Journal of Medical Genetics. Part A, 2011
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.
Lacbawan F et al.
Journal of Medical Genetics, 2009
The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.
Roessler E et al.
Human Mutation, 2009
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