Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3.
Lecca M, Bedeschi MF, Izzi C, Dordoni C, Rinaldi B, Peluso F, Caraffi SG, Prefumo F, Signorelli M, Zanzucchi M, Bione S, Ghigna C, Sassi S, Novelli A, Valente EM, Superti-Furga A, Garavelli L, Errichiello E.
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Clin Genet. 2023 Aug;104(2):230-237. doi: 10.1111/cge.14336. Epub 2023 Apr 10.
Clin Genet. 2023.
PMID: 37038048