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Results 1 - 10 of 12 for Autosomal recessive congenital ichthyosis
  1. Lamellar ichthyosis 
    Lamellar ichthyosis (LI) is a rare skin condition. It appears at birth and continues throughout life. ... LI is an autosomal recessive ...
    https://medlineplus.gov/ency/article/000843.htm - Medical Encyclopedia
  2. Nonbullous congenital ichthyosiform erythroderma 
    ... NBIE NCIE Nonbullous ichthyosiform erythroderma Genetic Testing Registry: Autosomal recessive congenital ichthyosis 10 Genetic Testing Registry: Autosomal recessive congenital ichthyosis ...
    https://medlineplus.gov/...ous-congenital-ichthyosiform-erythroderma - Genetics
  3. Harlequin ichthyosis 
    ... not show signs and symptoms of the condition. Autosomal recessive congenital ichthyosis 4B Harlequin baby syndrome HI Ichthyosis congenita, harlequin ...
    https://medlineplus.gov/genetics/condition/harlequin-ichthyosis - Genetics
  4. Lamellar ichthyosis 
    ... Ichthyoses, lamellar Ichthyosis, lamellar LI Genetic Testing Registry: Autosomal recessive congenital ichthyosis 3 Genetic Testing Registry: Autosomal recessive congenital ichthyosis ...
    https://medlineplus.gov/genetics/condition/lamellar-ichthyosis - Genetics
  5. TGM1 gene 
    ... and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. J Med Genet. 2009 Feb; ... 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
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