Gene dosage of the spermidine/spermine N1-acetyltransferase (SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD)
- 1 August 2002
- journal article
- case report
- Published by Springer Science and Business Media LLC in Human Genetics
- Vol. 111 (3), 235-241
- https://doi.org/10.1007/s00439-002-0791-6