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Results 1 - 6 of 6 for "Ichthyosis," "congenital," autosomal recessive 12
  1. Nonbullous congenital ichthyosiform erythroderma 
    ... Autosomal recessive congenital ichthyosis 9 Genetic Testing Registry: Ichthyosis, congenital, autosomal recessive 12 Congenital non-bullous ichthyosiform erythroderma National Organization for ...
    https://medlineplus.gov/...ous-congenital-ichthyosiform-erythroderma - Genetics
  2. ALOXE3 gene 
    ... analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ... (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous ...
    https://medlineplus.gov/genetics/gene/aloxe3 - Genetics
  3. ALOX12B gene 
    ... 12 LX12B_HUMAN Tests of ALOX12B ... E, Hennies HC. Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic ...
    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. Epidermolytic hyperkeratosis 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, ... Registry: Epidermolytic ichthyosis Autosomal ...
    https://medlineplus.gov/.../condition/epidermolytic-hyperkeratosis - Genetics
  6. DOLK-congenital disorder of glycosylation 
    ... Lehle L, Kapusta L, Mandel H, Wevers RA. Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. PLoS Genet. 2011 Dec;7(12):e1002427. doi: 10.1371/journal.pgen.1002427. Epub ...
    https://medlineplus.gov/...dolk-congenital-disorder-of-glycosylation - Genetics