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48
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Hearing "loss," "X-linked" 1
- ... X-linked chondrodysplasia punctata 1 include delayed development, hearing loss, vision abnormalities, and heart defects. The prevalence of X-linked chondrodysplasia punctata 1 is unknown. Several dozen affected males have been ...
- ... the gene from a parent who also has hearing loss.Between 1 and 2 percent of cases have an X-linked pattern of inheritance. A condition is considered X- ...
- ... KY, Choi JY, Bok J, Kim UK. Nonsyndromic X-linked hearing loss. Front Biosci (Elite Ed). 2012 Jan 1;4(3):924-33. doi: 10.2741/E430. ...
- Newborn Screening Tests for Your Baby (March of Dimes Foundation)Newborn Screening/Specifics ... Newborn Screening ... March of Dimes Foundation ... All babies in the U.S. receive newborn screening tests before leaving the hospital ...
- Newborn Screening Tests (Nemours Foundation)Newborn Screening/Start Here ... Newborn Screening ... Nemours Foundation ... newborn screening tests, metabolic disorders, genetic disorders, pku, phenylketonuria, ...
- ... Health Condition MedlinePlus Genetics provides information about Nonsyndromic hearing loss More About This Health Condition ... M, Taylor W, Smith PR, Becker MA. Accelerated transcription of PRPS1 in X-linked overactivity of normal human phosphoribosylpyrophosphate synthetase. J Biol ...
- ... RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1 NCBI Gene ClinVar Ayyagari R, Demirci FY, ... Jablonski MM. Clinical and immunohistochemical evidence for an X linked ... infections and hearing loss in association with an RPGR mutation. J Med ...
- About Genetics and Hearing Loss (Centers for Disease Control and Prevention)Hearing Problems in Children/Genetics ... Hearing Problems in Children ... Centers for Disease Control and Prevention ... Genes influence a child's risk for having hearing ...
- ... WB, Wood NW, Walsh CA. Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as ... Am J Hum Genet. 2010 Jul 9;87(1):146-53. doi: 10.1016/j.ajhg.2010.06.008. Citation ... filaminopathies: Synergistic insights from clinical and molecular analysis. ...
- ... ALPORT SYNDROME 3A, AUTOSOMAL DOMINANT; ATS3A ALPORT SYNDROME 1, X-LINKED; ATS1 ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE; ATS2 PubMed ...