research Hereditary Vitamin D Rickets: A Case Series in a Family
Three siblings with a genetic form of rickets showed different symptoms of the disease.
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research Identification of a Novel Heterozygous Mutation in the First Japanese Case of Marie Unna Hereditary Hypotrichosis
Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
research Advances in Molecular Pathogenesis of Hidradenitis Suppurativa: Dysregulated Keratins and ECM Signaling
Recent findings suggest that genetic factors, immune system issues, and skin cell defects might contribute to the development of hidradenitis suppurativa.
research Familial 1q22 Microduplication Associated With Psychiatric Disorders, Intellectual Disability, and Late-Onset Autoimmune Inflammatory Response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research Association of Follicle-Stimulating Hormone Receptor Gene Ser680Asn (rs6166) Polymorphism with Polycystic Ovarian Syndrome
A certain genetic variation is linked to a higher risk of polycystic ovarian syndrome.
research Monilethrix: A Rare Inherited Hair Shaft Disorder in Siblings
Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
research A Tale of Two Haplotypes: The EDA2R/AR Intergenic Region Is the Most Divergent Genomic Segment Between Africans and East Asians in the Human Genome
The most different genetic segment between Africans and East Asians is the EDA2R/AR region, with two main types influenced by population changes and natural selection, and linked to baldness.
research Hutchinson-Gilford Progeria Syndrome: Report of 2 Cases and a Novel LMNA Mutation in China
A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
research Keratosis Follicularis Spinulosa Decalvans: Case Report
A rare genetic disease caused severe, worsening hair loss from early childhood with poor treatment results.
research Genome Wide Association Analysis of Root Hair Traits in Rice Reveals Novel Genomic Regions Controlling Epidermal Cell Differentiation
Scientists found new genetic areas that affect how rice root hairs grow and develop.