Liqing Wang Jianwei Li Qiuhong Xiong Yong-An Zhou Ping Li Changxin Wu
10.3389/fped.2022.834268
Front Pediatr
2022 Apr 6;10:834268.
dkc1 c1156g > a dyskeratosis congenita syndrome missense mutation pala386thr
CC BY
https://pubmed.ncbi.nlm.nih.gov/35463902/
Case Reports
PMC9019361
35463902
Case Report: A Missense Mutation in Dyskeratosis Congenita 1 Leads to a Benign Form of Dyskeratosis Congenita Syndrome With the Mucocutaneous Triad
2022