Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin.
van den Bogaard EHJ, van Geel M, van Vlijmen-Willems IMJJ, Jansen PAM, Peppelman M, van Erp PEJ, Atalay S, Venselaar H, Simon MEH, Joosten M, Schalkwijk J, Zeeuwen PLJM.
van den Bogaard EHJ, et al. Among authors: van erp pej, van vlijmen willems imjj, van geel m.
Genet Med. 2019 Jul;21(7):1559-1567. doi: 10.1038/s41436-018-0355-3. Epub 2018 Nov 14.
Genet Med. 2019.
PMID: 30425301
Free PMC article.