Familial RPL26 Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia

Karger, L. M., Webb, B. D., Edelmann, L., Liao, J., & Mehta, L. (2024). Familial RPL26 Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia. American Journal of Medical Genetics Part A. Portico. https://doi.org/10.1002/ajmg.a.63954
Authors:
Lisa Karger
Bryn D. Webb
Lisa Edelmann
Jun Liao
Lakshmi Mehta
Affiliated Authors:
Jun Liao
Lakshmi Mehta
Columbia Affiliation:
Subjects:
Ribosomal Proteins (MeSH)
Anemia, Diamond-Blackfan (MeSH)
Congenital Abnormalities (MeSH)
RNA Methylation and Modification in Gene Expression (OpenAlex Topic)
Protein Arginine Methylation in Mammals (OpenAlex Topic)
Epigenetic Modifications and Their Functional Implications (OpenAlex Topic)
Author Keywords:
congenital malformations
diamond blackfan anemia
erythrocyte ada
limb anomalies
rpl26
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Publication Type:
Article
Unique ID:
10.1002/ajmg.a.63954
PMID:
39710607
DOI:
10.1002/ajmg.a.63954
Journal:
American Journal of Medical Genetics, Part A
Publication Date:
Data Source:
OpenAlex
Source Link:
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Record Created: