关键词: PTRH2 gene peripheral neuropathy sensorineural hearing loss
Mesh : Adolescent Base Sequence Carboxylic Ester Hydrolases / genetics Consanguinity Disease Progression Female Gene Expression Genetic Heterogeneity Hearing Loss, Sensorineural / diagnosis genetics physiopathology Homozygote Humans Male Mitochondrial Proteins / genetics Mutation, Missense Myopia / physiopathology Pain Insensitivity, Congenital / physiopathology Pedigree Peripheral Nervous System Diseases / diagnosis genetics physiopathology Phenotype Puberty, Delayed / physiopathology Siblings
来 源:
DOI:10.1002/ajmg.a.38140
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