Associated Papers
Loss-of-function mutations in CST6 cause dry skin, desquamation and abnormal keratosis without hypotrichosis.
Wang X et al.
Clinical Genetics, 2023
Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V.
Eckl KM et al.
Frontiers in Genetics, 2021
Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin.
van den Bogaard EHJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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