keratosis follicularis spinulosa decalvans, X-linked

A rare X-linked disorder (OMIM:308800) characterised by thickening of the skin of the neck, ears and extremities, especially the palms and soles; loss of eyebrows, eyelashes and beard; thickening of the eyelids with blepharitis and ectropion; and corneal degeneration.
Molecular pathology
Caused by defects of MBTPS2, which encodes an intramembrane zinc metalloprotease that is essential for sterol control of transcription and ER stress response.

单词	keratosis follicularis spinulosa decalvans, x-linked
释义	keratosis follicularis spinulosa decalvans, X-linked keratosis follicularis spinulosa decalvans, X-linked A rare X-linked disorder (OMIM:308800) characterised by thickening of the skin of the neck, ears and extremities, especially the palms and soles; loss of eyebrows, eyelashes and beard; thickening of the eyelids with blepharitis and ectropion; and corneal degeneration. Molecular pathology Caused by defects of MBTPS2, which encodes an intramembrane zinc metalloprotease that is essential for sterol control of transcription and ER stress response.
随便看	mtwp mtwr mtwraps mtwrf mtws mtwsi mtwt mtwtf mtwtfss mtwu mt. wutai mtwy mtx mtx(alpha) mtxc mtx-ch mtxclu mtxe m-txm mtxm mtxsinr mtxt mtxx mty mtyaa