research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
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5 / 181 resultsresearch Early Skin Biopsy in Conradi-Hünermann-Happle Syndrome (X-Linked Dominant Chondrodysplasia Punctata)
Early skin biopsy is crucial for diagnosing Conradi-Hünermann-Happle syndrome.
research Cachexia and Graft-Versus-Host Disease-Type Skin Changes in Keratin Promoter-Driven TNF Alpha Transgenic Mice
TNF alpha in skin cells causes weight loss, hair and fat issues, and skin inflammation in mice.
research Sterol Intermediates of Cholesterol Biosynthesis Inhibit Hair Growth and Trigger an Innate Immune Response in Cicatricial Alopecia
Cholesterol-related compounds can stop hair growth and cause inflammation in a type of scarring hair loss.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
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