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Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
Lecca M, Pehlivan D, Suñer DH, Weiss K, Coste T, Zweier M, Oktay Y, Danial-Farran N, Rosti V, Bonasoni MP, Malara A, Contrò G, Zuntini R, Pollazzon M, Pascarella R, Neri A, Fusco C, Marafi D, Mitani T, Posey JE, Bayramoglu SE, Gezdirici A, Hernandez-Rodriguez J, Cladera EA, Miravet E, Roldan-Busto J, Ruiz MA, Bauzá CV, Ben-Sira L, Sigaudy S, Begemann A, Unger S, Güngör S, Hiz S, Sonmezler E, Zehavi Y, Jerdev M, Balduini A, Zuffardi O, Horvath R, Lochmüller H, Rauch A, Garavelli L, Tournier-Lasserve E, Spiegel R, Lupski JR, Errichiello E. Lecca M, et al. Am J Hum Genet. 2023 Apr 6;110(4):681-690. doi: 10.1016/j.ajhg.2023.03.005. Epub 2023 Mar 29. Am J Hum Genet. 2023. PMID: 36996813 Free PMC article.
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. Lecca M, et al. Clin Genet. 2023 Aug;104(2):230-237. doi: 10.1111/cge.14336. Epub 2023 Apr 10. Clin Genet. 2023. PMID: 37038048
58 results