Associated Papers
In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics.
Weiss K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
28640243 (PubMed )
Supplement: gim201768x1.xlsx › All
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
Pagnamenta AT et al.
Human Molecular Genetics, 2015
25855803 (PubMed )
Supplement: supp_ddv117_ddv117supp_table2.xls › Table_S2
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