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Results 1 - 10 of 21 for Congenital ichthyosis of skin
  1. ... Autosomal recessive congenital ichthyosis 8 Genetic Testing Registry: Congenital ichthyosis of skin Lamellar ichthyosis National Organization for Rare Disorders (NORD) ...
  2. ... Toole EA. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet. 2005 May;76(5): ... is a major causative gene for non-bullous congenital ichthyosiform erythroderma. J ... regulation and skin-barrier dysfunction. Cell Tissue Res. 2013 Feb;351( ...
  3. ... Toole EA. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet. 2005 May;76(5): ...
  4. Lamellar ichthyosis (LI) is a rare skin condition. It appears at birth and continues throughout life.
  5. ... Mutations in the KRT10 gene can cause another skin disorder known as ichthyosis with confetti (also called congenital reticular ichthyosiform erythroderma), which is characterized by red, ...
  6. ... Krunic AL, Palcesky D, Busbey S, Medenica M. Congenital reticular ichthyosiform erythroderma--ichthyosis variegata: a case report and review of the literature. Acta Derm Venereol. 2003;83(1):36-9. doi: 10.1080/00015550310002684. Citation on PubMed
  7. ... Citation on PubMed Takeichi T, Akiyama M. Inherited ichthyosis: Non-syndromic forms. J Dermatol. 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. Citation on PubMed
  8. ... Other features of trichothiodystrophy can include dry, scaly skin (ichthyosis); abnormalities of the fingernails and toenails; clouding of the lens in both eyes from birth (congenital cataracts); poor coordination; and skeletal abnormalities including degeneration ...
  9. ... and symptoms of the condition. BCIE BIE Bullous congenital ... IA, Syed DN, Adhami VM, Liovic M, Mukhtar H. Keratin gene mutations in disorders of human skin and its appendages. Arch Biochem Biophys. 2011 Apr ...
  10. Skin Conditions/Images ... Skin Conditions ... VisualDX ... Ichthyosis vulgaris is a skin condition resulting in dry, scaly skin, especially on the arms and legs. Learn ...
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