Severe short rib thoracic dysplasia-16 associated with the c424C&gt;T&nbsp; &nbsp;pathogenic variant in the Intra Flagellar Transport 52 (<em>IFT52</em>) gene&nbsp;
Authors
Deepthi De Silva (ORCID: https://orcid.org/0000-0003-1236-4971)
Severe short rib thoracic dysplasia-16 associated with the c424C>T pathogenic variant in the Intra Flagellar Transport 52 (IFT52) gene
Deepthi De Silva, Bimsara Yohan Abeyrathna, Sandya Doluweera
Journal
Sri Lanka Journal of Child Health
Topics
Genetic and Kidney Cyst Diseases
article
Severe short rib thoracic dysplasia-16 associated with the c424C>T pathogenic variant in the Intra Flagellar Transport 52 (IFT52) gene
Deepthi De Silva, Bimsara Yohan Abeyrathna, Sandya Doluweera
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Severe short rib thoracic dysplasia-16 associated with the c424C&gt;T&nbsp; &nbsp;pathogenic variant in the Intra Flagellar Transport 52 (<em>IFT52</em>) gene&nbsp; — Deepthi De Silva, Bimsara Yohan Abeyrathna, et al. · Sri Lanka Journal of Child Health (2025) | TGRS Research Map | TGRS