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Genetics Corner: Caudal Limb-like Appendage with Complex Spinal Dysraphism in a Newborn with a Likely Pathogenic Variant in ACTB.

Authors :
Shin, Jennifer
Clark, Robin D.
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