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
CKAP2L mutation confirms the diagnosis of Filippi syndrome.
Capecchi G et al.
Clinical Genetics, 2018
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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