A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2

Ellis-van Creveld syndrome (EvC MIM. #225500) is an autosomal recessive skeletal dysplasia characterised by thoracic hypoplasia, cardiac anomalies, acromesomelic limb shortening, and postaxial polydactyly. Affected individuals commonly manifest with cardiorespiratory failure as neonates but generall...

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Autores principales: Ohashi, Ikuko, Enomoto, Yumi, Naruto, Takuya, Tsurusaki, Yoshinori, Kuroda, Yukiko, Ishikawa, Hiroshi, Ohyama, Makiko, Aida, Noriko, Nishimura, Gen, Kurosawa, Kenji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804659/
https://www.ncbi.nlm.nih.gov/pubmed/31645978
http://dx.doi.org/10.1038/s41439-019-0071-9
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author Ohashi, Ikuko
Enomoto, Yumi
Naruto, Takuya
Tsurusaki, Yoshinori
Kuroda, Yukiko
Ishikawa, Hiroshi
Ohyama, Makiko
Aida, Noriko
Nishimura, Gen
Kurosawa, Kenji
author_facet Ohashi, Ikuko
Enomoto, Yumi
Naruto, Takuya
Tsurusaki, Yoshinori
Kuroda, Yukiko
Ishikawa, Hiroshi
Ohyama, Makiko
Aida, Noriko
Nishimura, Gen
Kurosawa, Kenji
author_sort Ohashi, Ikuko
collection PubMed
description Ellis-van Creveld syndrome (EvC MIM. #225500) is an autosomal recessive skeletal dysplasia characterised by thoracic hypoplasia, cardiac anomalies, acromesomelic limb shortening, and postaxial polydactyly. Affected individuals commonly manifest with cardiorespiratory failure as neonates but generally survive neonatal difficulties. We report here on affected Japanese sibs with a lethal phenotype of EvC caused by novel compound heterozygous mutations of EVC2, c.871-3 C > G and c.1991dupA.
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spelling pubmed-68046592019-10-23 A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2 Ohashi, Ikuko Enomoto, Yumi Naruto, Takuya Tsurusaki, Yoshinori Kuroda, Yukiko Ishikawa, Hiroshi Ohyama, Makiko Aida, Noriko Nishimura, Gen Kurosawa, Kenji Hum Genome Var Data Report Ellis-van Creveld syndrome (EvC MIM. #225500) is an autosomal recessive skeletal dysplasia characterised by thoracic hypoplasia, cardiac anomalies, acromesomelic limb shortening, and postaxial polydactyly. Affected individuals commonly manifest with cardiorespiratory failure as neonates but generally survive neonatal difficulties. We report here on affected Japanese sibs with a lethal phenotype of EvC caused by novel compound heterozygous mutations of EVC2, c.871-3 C > G and c.1991dupA. Nature Publishing Group UK 2019-08-26 /pmc/articles/PMC6804659/ /pubmed/31645978 http://dx.doi.org/10.1038/s41439-019-0071-9 Text en © The Author(s) 2019 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Data Report
Ohashi, Ikuko
Enomoto, Yumi
Naruto, Takuya
Tsurusaki, Yoshinori
Kuroda, Yukiko
Ishikawa, Hiroshi
Ohyama, Makiko
Aida, Noriko
Nishimura, Gen
Kurosawa, Kenji
A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2
title A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2
title_full A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2
title_fullStr A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2
title_full_unstemmed A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2
title_short A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2
title_sort severe form of ellis-van creveld syndrome caused by novel mutations in evc2
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804659/
https://www.ncbi.nlm.nih.gov/pubmed/31645978
http://dx.doi.org/10.1038/s41439-019-0071-9
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