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Research 271–300 of 1000+
- A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia
- Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo “hairless” rat
- Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis.
- A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
- Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines
- New familial association between ocular coloboma and loose anagen syndrome
- Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
- A novel missense mutation in the mouse hairless gene causes irreversible hair loss: Genetic and molecular analyses of Hrm1Enu
- Sjogren-Larsson syndrome
- 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
- 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
- A Heritable Keratinization Defect of the Superficial Epidermis in Norfolk Terriers
- Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives
- CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
- Congenital atrichia with papular lesions
- Siberian cats help in solving part of the mystery surrounding golden cats
- Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
- Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
- Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
- Congenital atrichia with papular lesions
- Monilethrix
- Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report
- Mutation des menschlichen hairless -Gens bei Atrichia universalis
- SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature
- Ugreelig hår
- A Newborn With Hair Loss
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- Unusual Dermatologic Findings in an Extremely Low Birthweight Infant: The Genetic Diagnosis