Shukla-Vernon Syndrome: A Second Family with a Novel Variant in the BCORL1 Gene

Shukla-Vernon syndrome (SHUVER) is an extremely rare neurodevelopmental disorder characterized by global developmental delay, intellectual disability, behavioral anomalies, and dysmorphic features. Pathogenic variants in the BCORL1 gene have been identified as the molecular cause for this disorder....

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Detalles Bibliográficos
Autores principales: Muthusamy, Babylakshmi, Bellad, Anikha, Girimaji, Satish Chandra, Pandey, Akhilesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8005212/
https://www.ncbi.nlm.nih.gov/pubmed/33810051
http://dx.doi.org/10.3390/genes12030452

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8005212/
https://www.ncbi.nlm.nih.gov/pubmed/33810051
http://dx.doi.org/10.3390/genes12030452

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