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"Deafness," autosomal recessive 8
- ... alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. Hum Mol Genet. 1999 Mar;8(3):409-12. doi: 10.1093/hmg/8. ...
- ... RECESSIVE 28; DFNB28 DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67 DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH ... role of mitochondrial DNA mutations in hearing loss. Biochem Genet. 2013 Aug;51(7-8):588-602. doi: 10.1007/s10528-013-9589- ...
- ... Verselis VK. Aberrant Cx26 hemichannels and keratitis-ichthyosis-deafness syndrome: ... Autosomal Recessive Nonsyndromic Hearing Loss. 1998 Sep 28 [updated 2023 ...
- ... dysfunction, autosomal recessive inheritance Gonadal dysgenesis with sensorineural deafness, autosomal recessive inheritance Gonadal dysgenesis, XX type, with deafness Ovarian ...
- ... deafness-infertility syndrome. More About This Health Condition deafness, autosomal recessive 16 DFNB16 STRC_HUMAN Tests of STRC PubMed ...
- ... on PubMed Petersen MB, Willems PJ. Non-syndromic, autosomal-recessive deafness. Clin Genet. 2006 May;69(5):371-92. ...
- ... Testing Registry: Renal tubular acidosis with progressive nerve deafness Autosomal recessive distal renal tubular acidosis National Organization for Rare ...
- ... dominant keratitis-ichthyosis-hearing loss syndrome Keratitis-ichthyosis-deafness syndrome, autosomal recessive KID syndrome National Organization for Rare Disorders (NORD) ...
- ... TB, Morell RJ. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the ...
- ... with deafness-infertility syndrome. CATSPER2 STRC chromosome 15 Deafness-infertility syndrome is inherited in an autosomal recessive pattern, which means both copies of chromosome 15 ...