Associated Papers
Filippi syndrome: Three new families suggest that urinary system abnormalities may belong to clinical spectrum of the disease.
Bas H et al.
American Journal of Medical Genetics. Part A, 2024
Identification of a novel pathogenic variant in CKAP2L and literature review in a child with Filippi syndrome and congenital talipes equinovarus.
Karakaya T et al.
American Journal of Medical Genetics. Part A, 2021
Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
Hussain MS et al.
American Journal of Human Genetics, 2014
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