Van gen naar ziekte; EVC, EVC2 en Ellis-van Creveld-syndroom

Translated title of the contribution: From gene to disease; EVC, EVC2, and Ellis-van Creveld syndrome

Research output: Contribution to journalReview articleAcademicpeer-review

Abstract

Ellis-van Creveld syndrome is an autosomal recessive disorder characterised by short stature with short limbs, postaxial polydactyly and congenital cardiac defects. The syndrome can be caused by mutations in the EVC gene or the EVC2 gene. The genes are located close to each other in a head-to-head configuration on chromosome 4p16. Clinical diagnosis can be confirmed by DNA analysis, which is currently offered by two laboratories in Italy.

Original languageDutch
Pages (from-to)929-31
Number of pages3
JournalNederlands Tijdschrift voor Geneeskunde
Volume149
Issue number17
Publication statusPublished - 23 Apr 2005

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