research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
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research Armadillo Repeat Only Proteins Are Crucial for the Function of Plant CNGC Channels
Armadillo Repeat Only proteins are essential for proper plant growth and response by regulating calcium channels.
research P095 The Very Interesting Small Bowel Lesions of Cronkhite-Canada Syndrome
Small bowel lesions in Cronkhite-Canada syndrome persist despite steroid treatment.
research Novel KRT 83 and KRT 86 mutations associated with monilethrix
New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
research Toxic epidermal necrolysis caused by skin hypersensitivity to monosulfiram.
A woman's severe skin reaction was caused by an allergy to a skin treatment.
research Premature isolated adrenarche in a six-year-old girl
A six-year-old girl has early signs of puberty, needs no treatment, but requires regular check-ups for future health risks.
research Novel aldo-keto reductase 1C3 inhibitor affects androgen metabolism but not ovarian function in healthy women: a phase 1 study
The inhibitor affects androgen metabolism but not ovarian function.
research Anhidrotic Ectodermal Dysplasia: Predisposition to Bronchial Disease
People with anhidrotic ectodermal dysplasia may get severe bronchitis if exposed to dust.
research Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?
Studying rare genetic disorders can help us understand and treat common diseases better.
research Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report
A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.