Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co‐inheritance

BACKGROUND: Corpus callosum agenesis (ACC) is one of the most frequent Central Nervous System (CNS) malformations. However, genetics underlying isolated forms is still poorly recognized. Here, we report on two female familial cases with partial ACC. The proband shows isolated partial ACC and a mild...

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Detalles Bibliográficos
Autores principales: Traversa, Alice, Marchionni, Enrica, Giovannetti, Agnese, Genovesi, Maria L., Panzironi, Noemi, Margiotti, Katia, Napoli, Giulia, Piceci Sparascio, Francesca, De Luca, Alessandro, Petrizzelli, Francesco, Carella, Massimo, Cardona, Francesco, Bernardo, Silvia, Manganaro, Lucia, Mazza, Tommaso, Pizzuti, Antonio, Caputo, Viviana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434725/
https://www.ncbi.nlm.nih.gov/pubmed/32519823
http://dx.doi.org/10.1002/mgg3.1336

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