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Results 1 - 9 of 9 for Autosomal recessive congenital ichthyosis 1
  1. Lamellar ichthyosis 
    ... ClinicalTrials.gov ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A; ARCI4A ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1; ARCI1 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5; ARCI5 ICHTHYOSIS, ...
    https://medlineplus.gov/genetics/condition/lamellar-ichthyosis - Genetics
  2. TGM1 gene 
    ... P, Blake P, Bale SJ, Toro JR. Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling ...
    https://medlineplus.gov/genetics/gene/tgm1 - Genetics
  3. Nonbullous congenital ichthyosiform erythroderma 
    ... AS, Milstone LM, Choate KA. Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation. Br J Dermatol. 2017 Jul;177(1):319-322. doi: 10.1111/bjd.15570. Epub ...
    https://medlineplus.gov/...ous-congenital-ichthyosiform-erythroderma - Genetics
  4. ALOXE3 gene 
    ... analysis of epidermis-type lipoxygenases in patients with autosomal recessive ... (NCIE) linked to chromosome 17p13.1. Hum Mol Genet. 2002 Jan 1;11(1): ...
    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 ... 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
  6. 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
  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. DOLK-congenital disorder of glycosylation 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. CDG1M Congenital disorder of glycosylation, type Im DK1 deficiency Dolichol ...
    https://medlineplus.gov/...dolk-congenital-disorder-of-glycosylation - Genetics
  9. 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