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 / 51 resultsresearch Targeted Overexpression of Parathyroid Hormone-Related Peptide in Chondrocytes Causes Chondrodysplasia and Delayed Endochondral Bone Formation
Overexpression of PTHrP in chondrocytes causes short-limbed dwarfism and delayed bone formation in mice.
research Cartilage Oligomeric Matrix Protein Forms Part of the Connective Tissue of Normal Human Hair Follicles
A protein called COMP is part of the connective tissue in normal human hair follicles and may be important for hair health.
research Secondary Cicatricial and Other Permanent Alopecias
The document concludes that permanent hair loss conditions are complex, require early specific treatments, and "secondary permanent alopecias" might be a more accurate term than "secondary cicatricial alopecia."
research Cantú Syndrome with Coexisting Familial Pituitary Adenoma
Cantú syndrome may be linked to pituitary adenomas.
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