Ichthyosis with hypotrichosis
Definition:
References:
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[1]. Karin List, et al. Autosomal ichthyosis with hypotrichosis syndrome displays low matriptase proteolytic activity and is phenocopied in ST14 hypomorphic mice. J Biol Chem. 2007 Dec 14;282(50):36714-23. [Content Brief]
[2]. L Avrahami, et al. Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype. Clin Genet. 2008 Jul;74(1):47-53. [Content Brief]
[3]. Lina Basel-Vanagaite, et al. Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase. Am J Hum Genet. 2007 Mar;80(3):467-77. [Content Brief]
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