Inherited disorders of epidermal keratinization
- 1 December 1998
- journal article
- review article
- Published by Elsevier in Journal of Dermatological Science
- Vol. 18 (3) , 139-154
- https://doi.org/10.1016/s0923-1811(98)00041-3
Abstract
No abstract availableKeywords
This publication has 88 references indexed in Scilit:
- Refsum disease is caused by mutations in the phytanoyl–CoA hydroxylase geneNature Genetics, 1997
- Identification of PAHX, a Refsum disease geneNature Genetics, 1997
- Systematized inflammatory epidermal nevus with symmetrical involvement: An unusual case of CHILD syndrome?Journal of the American Academy of Dermatology, 1997
- Congenital Recessive Ichthyosis Unlinked to Loci for Epidermal TransglutaminasesJournal of Investigative Dermatology, 1996
- Richner-Hanhart syndrome: importance of early diagnosis and early interventionJournal of the American Academy of Dermatology, 1996
- Inactive Zymogen and Highly Active Proteolytically Processed Membrane-Bound Forms of the Transglutaminase 1 Enzyme in Human Epidermal KeratinocytesBiochemical and Biophysical Research Communications, 1996
- Annular epidermolytic ichthyosis: A unique phenotypeJournal of the American Academy of Dermatology, 1992
- Trichothiodystrophy: Review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasiasJournal of the American Academy of Dermatology, 1990
- X-linked dominant Conradi-Hünermann syndrome presenting as congenital erythrodermaJournal of the American Academy of Dermatology, 1989
- Peroxisomal Enzyme Deficiency in the Conradi–Hunerman Form of Chondrodysplasia PunctataNew England Journal of Medicine, 1987