Scholarlink

<p>Here we report a heterozygous missense variant in the ACTB gene, NM_001101.5:c.209C&gt;T (p.Pro70Leu), detected in a case of a mildly affected infant with Baraitser–Winter cerebrofrontofacial syndrome, characterized by unique craniofacial features, coloboma and mild developmental delay, but without lissencephaly. Baraitser–Winter cerebrofrontofacial syndrome cases with a similar mild phenotype have been reported to have the same variant in different populations, suggesting a genotype–phenotype correlation in this syndrome.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

A case of Baraitser–Winter cerebrofrontofacial syndrome diagnosed by whole-exome sequencing

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年9月3日

查看全文
  • Kenichi Suga,
  • Hiroki Sato,
  • Masashi Suzue,
  • Yukako Honma,
  • Yasunobu Hayabuchi,
  • Ryuji Nakagawa,
  • Kayo Shinomiya,
  • Nobuhiko Okamoto,
  • Yuta Inoue,
  • Naomi Tsuchida,
  • Naomichi Matsumoto,
  • Hiroyuki Morino,
  • Yuishin Izumi,
  • Maki Urushihara

摘要

Here we report a heterozygous missense variant in the ACTB gene, NM_001101.5:c.209C>T (p.Pro70Leu), detected in a case of a mildly affected infant with Baraitser–Winter cerebrofrontofacial syndrome, characterized by unique craniofacial features, coloboma and mild developmental delay, but without lissencephaly. Baraitser–Winter cerebrofrontofacial syndrome cases with a similar mild phenotype have been reported to have the same variant in different populations, suggesting a genotype–phenotype correlation in this syndrome.