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Results 1 - 8 of 8 for Autosomal recessive congenital ichthyosis 6
  1. Nonbullous congenital ichthyosiform erythroderma 
    ... Autosomal recessive congenital ichthyosis 5 Genetic Testing Registry: Autosomal recessive congenital ichthyosis 6 Genetic Testing Registry: Autosomal recessive congenital ichthyosis 9 ...
    https://medlineplus.gov/...ous-congenital-ichthyosiform-erythroderma - Genetics
  2. Lamellar ichthyosis 
    ... 3; ARCI3 PubMed Akiyama M. ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts. Hum Mutat. 2010 Oct;31(10):1090-6. doi: 10.1002/humu.21326. Citation on PubMed ...
    https://medlineplus.gov/genetics/condition/lamellar-ichthyosis - Genetics
  3. TGM1 gene 
    ... Mashiach Y, Sarig O, Sprecher E. Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population. Clin Exp Dermatol. 2013 Dec;38(8):911-6. doi: 10.1111/ced.12148. Epub 2013 Apr ...
    https://medlineplus.gov/genetics/gene/tgm1 - Genetics
  4. ALOXE3 gene 
    ... Hennies HC. Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. J Invest Dermatol. 2009 Jun;129(6):1421-8. doi: 10.1038/jid.2008.409. ...
    https://medlineplus.gov/genetics/gene/aloxe3 - Genetics
  5. ALOX12B gene 
    ... Hennies HC. Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. J Invest Dermatol. 2009 Jun;129(6):1421-8. doi: 10.1038/jid.2008.409. ...
    https://medlineplus.gov/genetics/gene/alox12b - Genetics
  6. Harlequin ichthyosis 
    ... cases. Arch Dermatol. 2011 Jun;147(6):681-6. doi: 10.1001/archdermatol.2011.9. Epub 2011 Feb 21. Citation on PubMed Richard G. Autosomal Recessive Congenital Ichthyosis. 2001 Jan 10 [updated 2023 Apr 20]. In: ...
    https://medlineplus.gov/genetics/condition/harlequin-ichthyosis - Genetics
  7. Sjögren-Larsson syndrome 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ... Genetic Testing ...
    https://medlineplus.gov/genetics/condition/sjogren-larsson-syndrome - Genetics
  8. Trichothiodystrophy 
    ... RNF113A TARS1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ...
    https://medlineplus.gov/genetics/condition/trichothiodystrophy - Genetics