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Results 1 - 5 of 5 for "Ichthyosis," "congenital," autosomal recessive 13
  1. Harlequin ichthyosis 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B; ARCI4B PubMed Hovnanian A. Harlequin ichthyosis unmasked: ...
    https://medlineplus.gov/genetics/condition/harlequin-ichthyosis - Genetics
  2. ALOXE3 gene 
    ... Hennies HC. Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic ... analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. Hum Mutat. 2005 Oct;26(4):351-61. ...
    https://medlineplus.gov/genetics/gene/aloxe3 - Genetics
  3. ALOX12B gene 
    ... Hennies HC. Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic ... analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. Hum Mutat. 2005 Oct;26(4):351-61. ...
    https://medlineplus.gov/genetics/gene/alox12b - Genetics
  4. ABCA12 gene 
    ... ejd.2011.1638. Citation on PubMed Richard G. Autosomal Recessive Congenital Ichthyosis. 2001 Jan 10 [updated 2023 Apr 20]. In: ...
    https://medlineplus.gov/genetics/gene/abca12 - Genetics
  5. 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