Rare missense variant p.Ala505Ser in the ZAK protein observed in a patient with split-hand/foot malformation from a non-consanguineous pedigree

著录项

• 期刊名称 The Journal of International Medical Research
• 作者

  Christopher Ronald Funk; Elizabeth S. Huey; Melanie M. May; Yunhui Peng; Ekaterina Michonova; Robert G. Best; Charles E. Schwartz; Anna V. Blenda;

  展开▼
• 作者单位

  展开▼
• 年(卷),期 2020(48),4
• 年度 2020
• 页码 -1
• 总页数 10
• 原文格式 PDF
• 正文语种
• 中图分类 药学;医学史;
• 关键词

  Split-hand/foot malformation (SHFM); apical ectodermal ridge (AER); leucine zipper containing kinase AZK (ZAK); chromosome region 7q21.3-q22.1 (chr. 7q21); distal-less homeobox-5 (DLX5); distal-less homeobox-6 (DLX6);

  机译：手脚裂畸形（SHFM）;顶皮外（AER）;含激酶AZK的亮氨酸拉链（ZAK）;染色体区域7q21.3-q22.1（chr.7q21）;无远侧同源盒5（DLX5）;distance-less homeobox-6（DLX6）;