Activated phosphoinositide 3-kinase δ syndrome caused by PIK3CD mutations: expanding the phenotype Article Swipe
Peiwei Zhao
,
Juan Huang
,
Huicong Fu
,
Jiali Xu
,
Tianhong Li
,
Xiankai Zhang
,
Qingjie Meng
,
Lei Zhang
,
Li Jun Tan
,
Wen Zhang
,
Hebin Chen
,
Xiaoxia Lü
,
Yan Ding
,
Xuelian He
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1186/s12969-024-00955-7
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1186/s12969-024-00955-7
Related Topics
Concepts
Medicine
Compound heterozygosity
Exome sequencing
Immunology
Primary immunodeficiency
Gastroenterology
Mutation
Pathology
Biology
Disease
Gene
Genetics
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1186/s12969-024-00955-7
- https://ped-rheum.biomedcentral.com/counter/pdf/10.1186/s12969-024-00955-7
- OA Status
- gold
- Cited By
- 10
- References
- 17
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4391316208
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4391316208Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1186/s12969-024-00955-7Digital Object Identifier
- Title
-
Activated phosphoinositide 3-kinase δ syndrome caused by PIK3CD mutations: expanding the phenotypeWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2024Year of publication
- Publication date
-
2024-01-29Full publication date if available
- Authors
-
Peiwei Zhao, Juan Huang, Huicong Fu, Jiali Xu, Tianhong Li, Xiankai Zhang, Qingjie Meng, Lei Zhang, Li Jun Tan, Wen Zhang, Hebin Chen, Xiaoxia Lü, Yan Ding, Xuelian HeList of authors in order
- Landing page
-
https://doi.org/10.1186/s12969-024-00955-7Publisher landing page
- PDF URL
-
https://ped-rheum.biomedcentral.com/counter/pdf/10.1186/s12969-024-00955-7Direct link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://ped-rheum.biomedcentral.com/counter/pdf/10.1186/s12969-024-00955-7Direct OA link when available
- Concepts
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Medicine, Compound heterozygosity, Exome sequencing, Immunology, Primary immunodeficiency, Gastroenterology, Mutation, Pathology, Biology, Disease, Gene, GeneticsTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
10Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 7, 2024: 3Per-year citation counts (last 5 years)
- References (count)
-
17Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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