L1CAM variants cause two distinct imaging phenotypes on fetal MRI

Data on fetal MRI in L1 syndrome are scarce with relevant implications for parental counseling and surgical planning. We identified two fetal MR imaging patterns in 10 fetuses harboring L1CAM mutations: the first, observed in 9 fetuses was characterized by callosal anomalies, diencephalosynapsis, an...

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Detalles Bibliográficos
Autores principales: Accogli, Andrea, Goergen, Stacy, Izzo, Giana, Mankad, Kshitij, Krajden Haratz, Karina, Parazzini, Cecilia, Fahey, Michael, Menzies, Lara, Baptista, Julia, Carpineta, Lucia, Tortora, Domenico, Fulcheri, Ezio, Gaetano Vellone, Valerio, Paladini, Dario, Spaccini, Luigina, Toto, Valentina, Trayers, Claire, Ben Sira, Liat, Reches, Adi, Malinger, Gustavo, Salpietro, Vincenzo, De Marco, Patrizia, Srour, Myriam, Zara, Federico, Capra, Valeria, Rossi, Andrea, Severino, Mariasavina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8528460/
https://www.ncbi.nlm.nih.gov/pubmed/34510796
http://dx.doi.org/10.1002/acn3.51448

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8528460/
https://www.ncbi.nlm.nih.gov/pubmed/34510796
http://dx.doi.org/10.1002/acn3.51448

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