Postnatal microcephaly and retinal involvement expand the phenotype of RPL10 ‐related disorder

Hemizygous missense variants in the RPL10 gene encoding a ribosomal unit are responsible for an X‐linked syndrome presenting with intellectual disability (ID), autism spectrum disorder, epilepsy, dysmorphic features, and multiple congenital anomalies. Among 15 individuals with RPL10‐related disorder...

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Detalles Bibliográficos
Autores principales: Cappuccio, Gerarda, De Bernardi, Margherita Lucia, Morlando, Alessia, Peduto, Cristina, Scala, Iris, Pinelli, Michele, Bellacchio, Emanuele, Gallo, Flavio Gioele, Magli, Adriano, Plaitano, Carmen, Serrano, Mercedes, Pías, Leticia, Català, Jaume, Bolasell, Mercè, Torella, Annalaura, Nigro, Vincenzo, Zanni, Ginevra, Brunetti‐Pierri, Nicola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9545381/
https://www.ncbi.nlm.nih.gov/pubmed/35876338
http://dx.doi.org/10.1002/ajmg.a.62911

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