Ellis‐van Creveld syndrome novel pathogenic variant in the EVC2 gene a patient from Turkey

Ellis‐van Creveld syndrome 10‐year‐old Turkish girl and her parents were first degree cousins. A novel pathogenic variant (p.Glu1178Glyfs*82) was detected in the EVC2 gene in patient. She had no peg‐shaped teeth, multiple frenula, and limb shortness.

Detalles Bibliográficos
Autores principales: Öztürk, Özden, Bağış, Haydar, Bolu, Semih, Çevik, Muhammer Özgür
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077313/
https://www.ncbi.nlm.nih.gov/pubmed/33936625
http://dx.doi.org/10.1002/ccr3.3919
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author Öztürk, Özden
Bağış, Haydar
Bolu, Semih
Çevik, Muhammer Özgür
author_facet Öztürk, Özden
Bağış, Haydar
Bolu, Semih
Çevik, Muhammer Özgür
author_sort Öztürk, Özden
collection PubMed
description Ellis‐van Creveld syndrome 10‐year‐old Turkish girl and her parents were first degree cousins. A novel pathogenic variant (p.Glu1178Glyfs*82) was detected in the EVC2 gene in patient. She had no peg‐shaped teeth, multiple frenula, and limb shortness.
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spelling pubmed-80773132021-04-29 Ellis‐van Creveld syndrome novel pathogenic variant in the EVC2 gene a patient from Turkey Öztürk, Özden Bağış, Haydar Bolu, Semih Çevik, Muhammer Özgür Clin Case Rep Case Reports Ellis‐van Creveld syndrome 10‐year‐old Turkish girl and her parents were first degree cousins. A novel pathogenic variant (p.Glu1178Glyfs*82) was detected in the EVC2 gene in patient. She had no peg‐shaped teeth, multiple frenula, and limb shortness. John Wiley and Sons Inc. 2021-02-14 /pmc/articles/PMC8077313/ /pubmed/33936625 http://dx.doi.org/10.1002/ccr3.3919 Text en © 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Reports
Öztürk, Özden
Bağış, Haydar
Bolu, Semih
Çevik, Muhammer Özgür
Ellis‐van Creveld syndrome novel pathogenic variant in the EVC2 gene a patient from Turkey
title Ellis‐van Creveld syndrome novel pathogenic variant in the EVC2 gene a patient from Turkey
title_full Ellis‐van Creveld syndrome novel pathogenic variant in the EVC2 gene a patient from Turkey
title_fullStr Ellis‐van Creveld syndrome novel pathogenic variant in the EVC2 gene a patient from Turkey
title_full_unstemmed Ellis‐van Creveld syndrome novel pathogenic variant in the EVC2 gene a patient from Turkey
title_short Ellis‐van Creveld syndrome novel pathogenic variant in the EVC2 gene a patient from Turkey
title_sort ellis‐van creveld syndrome novel pathogenic variant in the evc2 gene a patient from turkey
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077313/
https://www.ncbi.nlm.nih.gov/pubmed/33936625
http://dx.doi.org/10.1002/ccr3.3919
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AT bagıshaydar ellisvancreveldsyndromenovelpathogenicvariantintheevc2geneapatientfromturkey
AT bolusemih ellisvancreveldsyndromenovelpathogenicvariantintheevc2geneapatientfromturkey
AT cevikmuhammerozgur ellisvancreveldsyndromenovelpathogenicvariantintheevc2geneapatientfromturkey

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