Associated Papers
Whole-genome sequencing in prenatally detected congenital malformations: prospective cohort study in clinical setting.
Westenius E et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2024
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.
Del Giudice E et al.
Orphanet Journal of Rare Diseases, 2014
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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