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Results 1 - 10 of 10 for Autosomal recessive congenital ichthyosis 8
  1. Lamellar ichthyosis 
    ... Autosomal recessive congenital ichthyosis 5 Genetic Testing Registry: Autosomal recessive congenital ichthyosis 8 Genetic Testing Registry: Congenital ichthyosis of skin Lamellar ...
    https://medlineplus.gov/genetics/condition/lamellar-ichthyosis - Genetics
  2. 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 ...
    https://medlineplus.gov/genetics/gene/tgm1 - Genetics
  3. Nonbullous congenital ichthyosiform erythroderma 
    ... 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. Epub 2009 ...
    https://medlineplus.gov/...ous-congenital-ichthyosiform-erythroderma - 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. Epub 2009 ...
    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. Epub 2009 ...
    https://medlineplus.gov/genetics/gene/alox12b - Genetics
  6. 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
  7. 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
  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: Bullous ichthyosiform erythroderma ...
    https://medlineplus.gov/.../condition/epidermolytic-hyperkeratosis - Genetics
  10. Trichothiodystrophy 
    ... disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the ... Genetic Testing Registry: Trichothiodystrophy 9, nonphotosensitive Genetic ...
    https://medlineplus.gov/genetics/condition/trichothiodystrophy - Genetics