research The Hairless Gene of the Mouse: Relationship of Phenotypic Effects with Expression Profile and Genotype
Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.
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5 / 809 results research A New Compound Heterozygous Frameshift Mutation in the Type II 3 Beta-Hydroxysteroid Dehydrogenase Gene Causes Salt-Wasting 3 Beta-HSD Deficiency Congenital Adrenal Hyperplasia
A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
research Studies on Basal Cell Carcinoma: Role of Human Homologue of Drosophila Patched Gene
PTCH gene mutations contribute to basal cell carcinoma development.
research The Glucocorticoid Resistance Syndrome: Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.
research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
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