Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report

BACKGROUND: The present study aimed to determine the underlying genetic factors causing the possible Warburg micro syndrome (WARBM) phenotype in two Iranian patients. CASE PRESENTATION: A 5-year-old female and a 4.5-year-old male were referred due to microcephaly, global developmental delay, and dys...

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Detalles Bibliográficos
Autores principales: Khalesi, Raziyeh, Razmara, Ehsan, Asgaritarghi, Golareh, Tavasoli, Ali Reza, Riazalhosseini, Yasser, Auld, Daniel, Garshasbi, Masoud
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8080372/
https://www.ncbi.nlm.nih.gov/pubmed/33910511
http://dx.doi.org/10.1186/s12883-021-02204-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8080372/
https://www.ncbi.nlm.nih.gov/pubmed/33910511
http://dx.doi.org/10.1186/s12883-021-02204-w

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