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Ellis-van Creveld syndrome due to a novel EVC2 variant in a patient from Turkey
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  • ÖZDEN ÖZTÜRK,
  • haydar BAĞIŞ,
  • Semih Bolu,
  • Muhammer Özgür Çevik
ÖZDEN ÖZTÜRK
Adiyaman University Faculty of Medicine
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haydar BAĞIŞ
Adiyaman Universitesi
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Semih Bolu
Adiyaman eğitim araştırma hastanesi
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Muhammer Özgür Çevik
Adiyaman Universitesi Tip Fakultesi
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Abstract

Here we report a Turkish child with Ellis-van Creveld syndrome whose presentation was short strature, hypodontia, narrow thorax, dysplastic nails, cardiac abnormality and polydactyly. Genetic analysis revealed novel homozygous mutation in the EVC2 gene (c.3533_3546del). Further research is needed to elucidate the pathophysiological course

Peer review status:ACCEPTED

29 Sep 2020Submitted to Clinical Case Reports
12 Dec 2020Submission Checks Completed
12 Dec 2020Assigned to Editor
19 Dec 2020Reviewer(s) Assigned
14 Jan 2021Review(s) Completed, Editorial Evaluation Pending
20 Jan 2021Editorial Decision: Revise Minor
24 Jan 20211st Revision Received
25 Jan 2021Submission Checks Completed
25 Jan 2021Assigned to Editor
25 Jan 2021Review(s) Completed, Editorial Evaluation Pending
29 Jan 2021Editorial Decision: Accept