Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 7 of 7 for Autosomal recessive congenital ichthyosis 7
  1. Lamellar ichthyosis 
    ... lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis. Am J Hum Genet. 2011 Apr 8;88(4):482-7. doi: 10.1016/j.ajhg.2011.02.011. ...
    https://medlineplus.gov/genetics/condition/lamellar-ichthyosis - Genetics
  2. Nonbullous congenital ichthyosiform erythroderma 
    ... Hotz A, Vahlquist A, Fischer J. Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients. Acta Derm Venereol. 2016 Nov 2;96(7):932-937. doi: 10.2340/00015555-2418. Citation ...
    https://medlineplus.gov/...ous-congenital-ichthyosiform-erythroderma - Genetics
  3. Harlequin ichthyosis 
    ... Organization for Rare Disorders (NORD) ClinicalTrials.gov ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B; ARCI4B PubMed Hovnanian A. Harlequin ichthyosis unmasked: a defect of lipid transport. J Clin Invest. 2005 Jul;115(7):1708-10. doi: 10.1172/JCI25736. Citation on ...
    https://medlineplus.gov/genetics/condition/harlequin-ichthyosis - Genetics
  4. 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
  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. 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. ...
    https://medlineplus.gov/...dolk-congenital-disorder-of-glycosylation - Genetics
  7. Trichothiodystrophy 
    ... disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ... Genetic Testing Registry: Trichothiodystrophy 8, nonphotosensitive Genetic ...
    https://medlineplus.gov/genetics/condition/trichothiodystrophy - Genetics