Article
Mutations in both SAMD9 and SLC19A2 genes caused complex phenotypes characterized by recurrent infection, dysphagia and profound deafness - a case report for dual diagnosis.
BMC pediatrics - 21 Oct 2019
Zhang Yan, Zhang Yi, Zhang Victor Wei, Zhang Chunyi, Ding Hongke, Yin Aihua
Abstract excerpt
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: We describe a case of neonatal male with genital anomalies, growth delay, skin hyperpigmentation, chronic lung...
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