Clinical and genetic analysis of trichohepatoneurodevelopmental syndrome caused by a CCDC47 variant
Author:
Yang QiORCID,
Zhou Xunzhao,
Ling Yeying,
Zhang Qiang,
Yi Shang,
Chen Qiuli,
Zhang Shujie,
Qin Zailong,
Luo Jingsi
Reference10 articles.
1. Bi-allelic CCDC47 variants cause a disorder characterized by woolly hair, liver dysfunction, dysmorphic features, and global developmental delay;Morimoto;Am. J. Hum. Genet.,2018
2. Calumin, a novel Ca2+-binding transmembrane protein on the endoplasmic reticulum;Zhang;Cell Calcium,2007
3. Contribution of calumin to embryogenesis through participation in the endoplasmic reticulum-associated degradation activity;Yamamoto;Dev. Biol.,2014
4. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of medical genetics and genomics and the association for molecular Pathology;Richards;Genet. Med.,2015
5. Calcium signalling: dynamics, homeostasis and remodelling;Berridge;Nat. Rev. Mol. Cell Biol.,2003
Cited by
1 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献