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Genetics Corner: Caudal Limb-like Appendage with Complex Spinal Dysraphism in a Newborn with a Likely Pathogenic Variant in ACTB.
- Source :
-
Neonatology Today . Nov2024, Vol. 19 Issue 11, p218-221. 4p. - Publication Year :
- 2024
-
Abstract
- The article focuses on a case involving a 6-year-old girl with complex genetic anomalies, including a caudal limb-like appendage and spinal dysraphism. Topics include the identification of a likely pathogenic variant in Actin Beta (ACTB), its connection to Baraitser-Winter syndrome, and the patient's development of a limb-like appendage due to spinal dysraphism.
Details
- Language :
- English
- ISSN :
- 19327129
- Volume :
- 19
- Issue :
- 11
- Database :
- Academic Search Index
- Journal :
- Neonatology Today
- Publication Type :
- Academic Journal
- Accession number :
- 181562847