Ellis-van Creveld syndrome due to a novel EVC2 variant in a patient from Turkey

ÖZDEN ÖZTÜRK; haydar BAĞIŞ; Semih Bolu; Muhammer Özgür Çevik

doi:10.22541/au.160839989.99464782/v1

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Ellis-van Creveld syndrome due to a novel EVC2 variant in a patient from Turkey

ÖZDEN ÖZTÜRK,
haydar BAĞIŞ,
Semih Bolu,
Muhammer Özgür Çevik

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

29 Sep 2020Submitted to Clinical Case Reports

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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

Abstract

Peer review status:ACCEPTED