Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants

We report a patient with developmental delay, autism, epilepsy, macrocephaly, facial dysmorphism, gastrointestinal, and behavioral issues due to EXT2 compound heterozygous likely pathogenic variants. This case report expands the EXT2 gene mutation database and the clinical spectrum of patients with...

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Detalles Bibliográficos
Autores principales: Gupta, Aditi, Ewing, Sarah A., Renaud, Deborah L., Hasadsri, Linda, Raymond, Kimiyo M., Klee, Eric W., Gavrilova, Ralitza H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6452521/
https://www.ncbi.nlm.nih.gov/pubmed/30997052
http://dx.doi.org/10.1002/ccr3.2010

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6452521/
https://www.ncbi.nlm.nih.gov/pubmed/30997052
http://dx.doi.org/10.1002/ccr3.2010

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