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
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
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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