Mutations in both SAMD9 and SLC19A2 genes caused complex phenotypes characterized by recurrent infection, dysphagia and profound deafness – a case report for dual diagnosis

BACKGROUND: Phenotypic difference is general in Mendelian disease. Due to the extremely low incidence for a single disease, phenotype spectrum needs to be expanded. Meanwhile, earlier knowledge says patients who suffered from two kinds of different Mendelian disease are very rare. CASE PRESENTATION:...

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Detalles Bibliográficos
Autores principales: Zhang, Yan, Zhang, Yi, Zhang, Victor Wei, Zhang, Chunyi, Ding, Hongke, Yin, Aihua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6802302/
https://www.ncbi.nlm.nih.gov/pubmed/31638924
http://dx.doi.org/10.1186/s12887-019-1733-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6802302/
https://www.ncbi.nlm.nih.gov/pubmed/31638924
http://dx.doi.org/10.1186/s12887-019-1733-y

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