Associated Papers
[Analysis of OFD1 gene variant in a child with Oral-facial-digital syndrome].
Zhang L et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025
Polycystic kidney disease associated with intracranial hypertension revealing a mutation of the OFD1 gene.
Schultz C et al.
Journal of Nephrology, 2023
Prenatal exome sequencing: A useful tool for the fetal neurologist.
de Koning MA et al.
Clinical Genetics, 2022
Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma.
Saitsu H et al.
Annals of Clinical and Translational Neurology, 2016
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
Bisschoff IJ et al.
Human Mutation, 2013
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