Disease: Syndactyly type I with microcephaly and mental retardation
- A 2q24.3q31.1 microdeletion found in a patient with Filippi-like syndrome phenotype: a case report
- A case of Filippi syndrome with atypical limb defects in a 3-year-old boy and a review of the literature
- A family with the Saethre-Chotzen syndrome
- A rare type of low birthweight dwarfism: the Dubowitz syndrome
- CKAP2L mutation confirms the diagnosis of Filippi syndrome
- Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype
- Cri du Chat syndrome
- Expanding the phenotype of Filippi Syndrome: a patient with early onset puberty
- Expansion of the neurodevelopmental phenotypic spectrum of CKAP2L-related Filippi syndrome to include an adolescent male with normal intellect
- Filippi syndrome: further clinical characterization
- Filippi Syndrome: Report of a Rare Case
- Filippi syndrome: two cases with ectodermal features, expanding the phenotype
- How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?
- Identification of a novel pathogenic variant in CKAP2L and literature review in a child with Filippi syndrome and congenital talipes equinovarus
- Intellectual disability, unusual facial morphology and hand anomalies in sibs
- Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes
- Multiple dental and skeletal abnormalities in an individual with filippi syndrome
- Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause 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
- Parental consanguinity in specific types of congenital anomalies
- Phakomatosis pigmentovascularis: Implications for severity with special reference to Mongolian spots associated with Sturge-Weber and Klippel-Trenaunay syndromes
- Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum
- Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality
- Syndactyly-microcephaly-mental retardation, Filippi type