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Results 1 - 4 of 4 for Woolly "hair," autosomal recessive 1
  1. Autosomal recessive hypotrichosis 
    ... condition. AH Autosomal recessive localized ... Wooly hair, autosomal recessive 1, with or without hypotrichosis Genetic Testing Registry: Hypotrichosis ...
    https://medlineplus.gov/.../autosomal-recessive-hypotrichosis - Genetics
  2. Keratoderma with woolly hair 
    ... DSP JUP KANK2 Most cases of keratoderma with woolly hair have an autosomal recessive pattern of inheritance, which means both copies of ... Whittock N, Leigh IM, Stevens HP, Kelsell DP. Recessive mutation in ... and keratoderma. Hum Mol Genet. 2000 Nov 1;9(18):2761-6. doi: 10.1093/hmg/ ...
    https://medlineplus.gov/.../condition/keratoderma-with-woolly-hair - Genetics
  3. JUP gene 
    ... McKenna W, Toutouzas P. Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. J Am Coll Cardiol. 2001 Nov 1;38(5):1477-84. doi: 10.1016/s0735- ...
    https://medlineplus.gov/genetics/gene/jup - Genetics
  4. Arrhythmogenic right ventricular cardiomyopathy 
    ... dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair ... Genetic Testing Registry: Arrhythmogenic right ventricular dysplasia 10 ...
    https://medlineplus.gov/...hmogenic-right-ventricular-cardiomyopathy - Genetics