Submission | 2022-09-12 Shenzhen Maternal and Child Healthcare Hospital |
Organism | Homo sapiens |
Version | GRCh37 |
BioProject | PRJCA011512 |
Sample numbers | 1 |
Abstract | We describe a case of a 15-month-old boy who presented with pancytopenia, growth retardation, microcephaly, history of vaccine-related rubella, elevated immunoglobulin G level, and decreased T and B lymphocyte levels. Next-generation sequencing revealed LIG4 pathogenic genes and compound heterozygous mutations, namely missense mutation c.833G>T (p.Arg278Leu) and deletion mutation c.1271_1275del (p.Lys424Argfs*20). |
Data Accessibility: | Controlled access |
Release date | 2022-09-12 |
Available data | |
data submitter: 961994600@qq.com | |
S1 |