Novel large deletion involving EVC and EVC2 in Ellis–van Creveld syndrome

Hiroki Sato, Kenichi Suga, Masashi Suzue, Yukako Honma, Yasunobu Hayabuchi, Shunsuke Miyai, Hiroki Kurahashi, Ryuji Nakagawa

研究成果: Article査読

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.

本文言語English
論文番号15
ジャーナルHuman Genome Variation
9
1
DOI
出版ステータスPublished - 12-2022

All Science Journal Classification (ASJC) codes

  • 生化学
  • 分子生物学
  • 遺伝学

フィンガープリント

「Novel large deletion involving EVC and EVC2 in Ellis–van Creveld syndrome」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

引用スタイル