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...

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Veröffentlicht in:Am J Med Genet A
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley & Sons, Inc. 2020
Schlagworte:
Clinical Reports
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7217177/
https://ncbi.nlm.nih.gov/pubmed/32141180
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61536
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