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Browsing Otorhinolaryngology by Subject "Compound heterozygous"

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Spectrum of MYO7A mutations in an indigenous South African population further elucidates the nonsyndromic autosomal recessive phenotype of DFNB2 to include both homozygous and compound heterozygous mutations

Kabahuma, Rosemary Ida; Schubert, Wolf-Dieter; Labuschagne, Christiaan; Yan, Denise; Blanton, Susan Halloran; Pepper, Michael Sean; Liu, Xue Zhong (MDPI, 2021-02-15)

MYO7A gene encodes unconventional myosin VIIA, which, when mutated, causes a phenotypic spectrum ranging from recessive hearing loss DFNB2 to deaf-blindness, Usher Type 1B (USH1B). MYO7A mutations are reported in nine DFNB2 ...

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