直近一年間の累計
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ID 118010
著者
Miyai, Shunsuke Fujita Health University
Kurahashi, Hiroki Fujita Health University
資料タイプ
学術雑誌論文
抄録
Ellis–van Creveld syndrome is an autosomal recessive skeletal dysplasia that is characterized by thoracic hypoplasia, polydactyly, oral abnormalities, and congenital heart disease. It is caused by pathogenic variants in the EVC or EVC2 genes. We report a case of a newborn with a compound heterozygous variant comprising NM_147127.5: c.1991dup:[p.Lys665Glufs*10] in the EVC2 gene and a novel large deletion involving exon 1 in EVC and exons 1–7 in EVC2.
掲載誌名
Human Genome Variation
ISSN
2054345X
出版者
Springer Nature
9
開始ページ
15
発行日
2022-05-17
権利情報
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/.
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フルテキストファイル
hgv_9_15.pdf 1.75 MB
言語
eng
著者版フラグ
出版社版
部局
病院
医学系