ANKLE2 ‐related microcephaly: A variable microcephaly syndrome resembling Zika infection

OBJECTIVE: This study delineates the clinical and molecular spectrum of ANKLE2‐related microcephaly (MIC), as well as highlights shared pathological mechanisms between ANKLE2 and the Zika virus. METHODS: We identified 12 individuals with MIC and variants in ANKLE2 with a broad range of features. Pro...

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Detalles Bibliográficos
Autores principales: Thomas, Ajay X., Link, Nichole, Robak, Laurie A., Demmler‐Harrison, Gail, Pao, Emily C., Squire, Audrey E., Michels, Savannah, Cohen, Julie S., Comi, Anne, Prontera, Paolo, Verrotti di Pianella, Alberto, Di Cara, Giuseppe, Garavelli, Livia, Caraffi, Stefano Giuseppe, Fusco, Carlo, Zuntini, Roberta, Parks, Kendall C., Sherr, Elliott H., Hashem, Mais O., Maddirevula, Sateesh, Alkuraya, Fowzan S., Contractar, Isphana A. F., Neil, Jennifer E., Walsh, Christopher A., Bellen, Hugo J., Chao, Hsiao‐Tuan, Clark, Robin D., Mirzaa, Ghayda M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9380164/
https://www.ncbi.nlm.nih.gov/pubmed/35871307
http://dx.doi.org/10.1002/acn3.51629

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