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.

Translated title of the contributionFrom gene to disease; EVC, EVC2, and Ellis-van Creveld syndrome
Original languageDutch
Pages (from-to)929-31
Number of pages3
JournalNederlands Tijdschrift voor Geneeskunde
Volume149
Issue number17
Publication statusPublished - 23 Apr 2005

Cite this

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title = "Van gen naar ziekte; EVC, EVC2 en Ellis-van Creveld-syndroom",
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.",
keywords = "DNA/analysis, Dwarfism/genetics, Ellis-Van Creveld Syndrome/diagnosis, Genes, Recessive, Humans, Mutation, Tooth Abnormalities/genetics",
author = "{van Hagen}, {J M} and Baart, {J A} and Gille, {J J P}",
year = "2005",
month = "4",
day = "23",
language = "Dutch",
volume = "149",
pages = "929--31",
journal = "Nederlands Tijdschrift voor Geneeskunde",
issn = "0028-2162",
publisher = "Bohn Stafleu van Loghum",
number = "17",

}

Van gen naar ziekte; EVC, EVC2 en Ellis-van Creveld-syndroom. / van Hagen, J M; Baart, J A; Gille, J J P.

In: Nederlands Tijdschrift voor Geneeskunde, Vol. 149, No. 17, 23.04.2005, p. 929-31.

Research output: Contribution to journalReview articleAcademicpeer-review

TY - JOUR

T1 - Van gen naar ziekte; EVC, EVC2 en Ellis-van Creveld-syndroom

AU - van Hagen, J M

AU - Baart, J A

AU - Gille, J J P

PY - 2005/4/23

Y1 - 2005/4/23

N2 - 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.

AB - 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.

KW - DNA/analysis

KW - Dwarfism/genetics

KW - Ellis-Van Creveld Syndrome/diagnosis

KW - Genes, Recessive

KW - Humans

KW - Mutation

KW - Tooth Abnormalities/genetics

M3 - Review article

VL - 149

SP - 929

EP - 931

JO - Nederlands Tijdschrift voor Geneeskunde

JF - Nederlands Tijdschrift voor Geneeskunde

SN - 0028-2162

IS - 17

ER -