Severe short rib thoracic dysplasia-16 associated with the c424C>T pathogenic variant in the Intra Flagellar Transport 52 (IFT52) gene
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DOI: https://doi.org/10.4038/sljch.v54i1.10998 | Journal eISSN: 2386-110X
Language: English
Page range: 69 - 71
Published on: Mar 5, 2025
Published by: Sri Lanka College of Paediatricians
In partnership with: Paradigm Publishing Services
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© 2025 Bimsara Yohan Abeyrathna, Deepthi C. de Silva, Sandya Doluweera, published by Sri Lanka College of Paediatricians
This work is licensed under the Creative Commons Attribution 4.0 License.