Segregation of DFNB49 with congenital sensorineural bilateral profound hearing loss
نویسندگان
چکیده
Deafness is a complete or partial loss of hearing. In Pakistan, the prevalence of this order is high as compared to the other countries because of frequent consanguineous marriages in Pakistan. During present study, DFNB49 was mapped in two unrelated consanguineous families having multiple affected individuals. The maximum LOD score was found 4.71 and 2.74 for PKDF1069 & PKDF751 respectively. This study reveals genetic heterogeneity of this clinically heterogeneous disorder.
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