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Research 421–450 of 1000+
- Recently Identified Forms of Epidermolysis Bullosa
- A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia
- Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6
- Atrichia With Papular Lesions
- Familial Nonmembranous Aplasia Cutis of the Scalp
- Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
- Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo “hairless” rat
- A Splice Site Mutation in the Gene of the Human Type I Hair Keratin hHa1 Results in the Expression of a Tailless Keratin Isoform
- A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
- Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
- LOOSE ANAGEN SYNDROME AND LOOSE ANAGEN HAIR
- Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines
- Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity
- Novel<i>PAX</i><i>9</i>mutation associated with syndromic tooth agenesis
- PSEUDOPELADE: AN INHERITED ALOPECIA
- New familial association between ocular coloboma and loose anagen syndrome
- Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
- Sjogren-Larsson syndrome
- Loose Anagen Syndrome: A Retrospective Chart Review of 37 Cases
- Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome?
- 4 Vitamin D resistance
- Monilethrix: A rare hereditary condition
- Marie‐Unna Hereditary Hypotrichosis: Case Report and Review of the Literature
- Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
- Papillon–Lefèvre Syndrome: A Rare Case Report of Two Brothers and Review of the Literature
- Short anagen hair syndrome
- A Heritable Keratinization Defect of the Superficial Epidermis in Norfolk Terriers
- Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives
- Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix
- A new type of pachyonychia congenita.