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OBJECTIVES Mutations in MYO7A gene have been reported to be associated with Usher Syndrome type 1B (USH1B) and nonsyndromic hearing loss (DFNB2, DFNA11). Most mutations in MYO7A gene caused USH1B, whereas only a few reported mutations led to DFNB2 and DFNA11. The current study was designed to investigate the mutations among a Chinese family with autosomal(More)
CONCLUSION In this cohort of 156 non-syndromic hearing-impaired subjects of Tengzhou area, the most common deafness-associated genes GJB2, SLC26A4 and mtDNA 12S rRNA were investigated by SNPscan efficiently. GJB2 c.235delC and SLC26A4 c.IVS7-2A > G were the most common mutation sites. OBJECTIVES Until now, there is no systematic gentic analysis in(More)
OBJECTIVE To probe the curative effect of glucocorticoid (GCD) on primary child epistaxis (PCE). METHOD (1) Make rabbit model with nasal allergic reaction and nasal septum mucosa erosion, by dropping nose with toluene diisocyanate then curettaging front-middle-part of nasal septum mucosa. Divide them into two groups dexamethasone group and antibiotics(More)
CONCLUSION The novel compound heterozygous mutation in PAX3 was the key genetic reason for WS1 in this family, which was useful to the molecular diagnosis of WS1. PURPOSE Screening the pathogenic mutations in a four generation Chinese family with Waardenburg syndrome type I (WS1). METHODS WS1 was diagnosed in a 4-year-old boy according to the(More)
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