Keratosis pilaris atrophicans
Definition:
References:
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[1]. Emmelien Aten, et al. Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2. Hum Mutat. 2010 Oct;31(10):1125-33. [Content Brief]
[2]. Giorgio Gimelli, et al. Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD). Hum Genet. 2002 Sep;111(3):235-41. [Content Brief]
[3]. Jane S Bellet, et al. Keratosis follicularis spinulosa decalvans in a family. J Am Acad Dermatol. 2008 Mar;58(3):499-502. [Content Brief]
[4]. Joakim Klar, et al. Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans. J Med Genet. 2015 Sep;52(9):599-606. [Content Brief]
[5]. Marco Castori, et al. Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvans. Eur J Med Genet. 2009 Jan-Feb;52(1):53-8. [Content Brief]
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