Expansion of the phenotype of lateral meningocele syndrome

Lateral meningocele syndrome (LMS) is due to specific pathogenic variants in the last exon of NOTCH3 gene. Besides the lateral meningoceles, this condition presents with dysmorphic features, short stature, congenital heart defects, and feeding difficulties. Here, we report a girl with neurosensorial...

Descripción completa

Detalles Bibliográficos
Autores principales: Cappuccio, Gerarda, Apuzzo, Diletta, Alagia, Marianna, Torella, Annalaura, Pinelli, Michele, Franco, Brunella, Corrado, Bruno, del Giudice, Ennio, D'Amico, Alessandra, Nigro, Vincenzo, Brunetti‐Pierri, Nicola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7217177/
https://www.ncbi.nlm.nih.gov/pubmed/32141180
http://dx.doi.org/10.1002/ajmg.a.61536

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7217177/
https://www.ncbi.nlm.nih.gov/pubmed/32141180
http://dx.doi.org/10.1002/ajmg.a.61536

Ejemplares similares