Disease: Craniodigital syndrome mental retardation
- <em>De novo</em> variants of <em>CSNK2B</em> cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway
- A new craniodigital syndrome with mental retardation
- An additional case of craniodigital syndrome: variable expression of the Filippi syndrome?
- Craniodigital syndrome (Scott) (McK 31286)
- Craniodigital syndrome of Scott: clinical and neuroradiological features of a new case
- Craniodigital syndromes: report of a child with Filippi syndrome and discussion of differential diagnosis
- De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway
- Filippi syndrome: a specific MCA/MR complex within the spectrum of so called "craniodigital syndromes". Report of an additional patient with a peculiar mpp and review of the literature
- Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of <em>CSNK2B</em>-Associated Disorders
- Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders
- Identification of a novel pathogenic variant in CKAP2L and literature review in a child with Filippi syndrome and congenital talipes equinovarus
- Multiple dental and skeletal abnormalities in an individual with filippi syndrome
- Novel variants identified in <em>CKAP2L</em> in two siblings with Filippi syndrome
- Novel variants identified in CKAP2L in two siblings with Filippi syndrome
- On the nosology of the craniodigital syndromes: report of a family and review of the literature
- The craniodigital syndrome of Scott: report of a second family
- Two brothers with atypical syndactylies, cerebellar atrophy and severe mental retardation
- Two different presentations of de novo variants of CSNK2B: two case reports