[A case of 12p13.2 heterozygous gene deletion syndrome: congenital thrombocytopenia, ectrodactyly, and tooth deformities]
Zhonghua Xue Ye Xue Za Zhi
.
2021 Nov 14;42(11):962.
doi: 10.3760/cma.j.issn.0253-2727.2021.11.014.
[Article in Chinese]
Authors
Y Xu
1
,
Y F Chen
1
,
R F Fu
1
,
W Liu
1
,
M K Ju
1
,
T Sun
1
,
H Y Li
1
,
F Xue
1
,
L Zhang
1
,
R C Yang
1
,
X F Liu
1
Affiliation
1
State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China.
PMID:
35045661
PMCID:
PMC8763594
DOI:
10.3760/cma.j.issn.0253-2727.2021.11.014
No abstract available
Publication types
Case Reports
MeSH terms
Gene Deletion
Humans
Limb Deformities, Congenital* / genetics
Syndrome
Thrombocytopenia* / genetics
Supplementary concepts
Ectrodactyly
Grants and funding
基金项目:中国医学科学院医学与健康科技创新工程重大协同创新项目(2016-I2M-1-002)