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

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

Abstract 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 prese...

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Bibliographic Details
Main Authors: Yan Zhang, Yi Zhang, Victor Wei Zhang, Chunyi Zhang, Hongke Ding, Aihua Yin
Format: Article
Language:English
Published: BMC 2019-10-01
Series:BMC Pediatrics
Subjects:
High-throughput nucleotide sequencing
Tumoral calcinosis
Normophosphatemic
Familial
MIRAGE syndrom
Thiamine responsive megaloblastic anemia syndrome
Online Access:http://link.springer.com/article/10.1186/s12887-019-1733-y

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http://link.springer.com/article/10.1186/s12887-019-1733-y

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