[Genetic analysis of a child with Dias-Logan syndrome due to variant of BCL11A gene].
The heterozygous variant of BCL11A gene probably underlay the Dias-Logan syndrome in this child. Above finding has enriched the phenotypic and mutational spectrum of the BCL11A gene and provides a basis for genetic counseling and clinical decision-making.
Authors
- Shiyue Mei (ORCID: https://orcid.org/0000-0002-3092-5915)
- Linfei Li (ORCID: https://orcid.org/0000-0002-5217-3005)
- Wancun Zhang (ORCID: https://orcid.org/0000-0002-3231-2602)
- Qing Shang (ORCID: https://orcid.org/0000-0002-1839-4795)
- Yaodong Zhang (ORCID: https://orcid.org/0000-0003-0014-025X)
- Xiaoman Zhang (ORCID: https://orcid.org/0000-0003-4821-203X)
- Shuying Luo
- Lei Liu (ORCID: https://orcid.org/0009-0006-7039-0560)
Institutions
- Zhengzhou Children's Hospital (CN)
Publication Details
- Journal
- PubMed
- Published
- 2024-09-10
- DOI
- https://doi.org/10.3760/cma.j.cn511374-20221209-00855
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00