CKAP2L mutation confirms the diagnosis of Filippi syndrome

Clin Genet. 2018 May;93(5):1109-1110. doi: 10.1111/cge.13188. Epub 2018 Feb 23.

Authors

G Capecchi¹, M Baldassarri^{2

3}, S Ferranti¹, E Guidoni¹, M Cioni¹, P Nürnberg⁴, M A Mencarelli³, A Renieri^{2

3}, S Grosso¹

Affiliations

¹ Dipartimento di Medicina molecolare e dello sviluppo, Clinica Pediatrica, Siena, Italy.
² Medical Genetics, University of Siena, Siena, Italy.
³ Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
⁴ Cologne Center for Genomics, University of Cologne, Cologne, Germany.

PMID: 29473684
DOI: 10.1111/cge.13188

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Cytoskeletal Proteins / genetics*
Facies
Growth Disorders / diagnosis*
Growth Disorders / genetics*
Growth Disorders / physiopathology
Humans
Infant
Intellectual Disability / diagnosis*
Intellectual Disability / genetics*
Intellectual Disability / physiopathology
Male
Microcephaly / diagnosis*
Microcephaly / genetics*
Microcephaly / physiopathology
Mutation
Syndactyly / diagnosis*
Syndactyly / genetics*
Syndactyly / physiopathology

Substances

CKAP2 protein, human
Cytoskeletal Proteins

Supplementary concepts

Filippi syndrome