There are at least 38 mutant genes known to be associated with the ichthyosis phenotypes, and autosomal recessive congenital ichthyosis (ARCI) is a specific subgroup caused by mutations in 13 different genes. M
Hereditary ichythoses are subcategorized into autosomal recessive types and those with other inheritance patterns. The congenital autosomal recessive ichythyoses encompass three distinct but related disorders with overlapping phenotypes; lamellar ichthyosis, congenital ichthyosiform erythroderma, and harlequin ic...
Autosomal recessive ichthyosis (ARI) includes a heterogeneous group of disorders of keratinization characterized by desquamation over the whole body. Two forms largely limited to the skin have been defined: lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). A first...
美[ˌɪkθɪ'oʊsɪs] 英[ˌɪkθɪ'əʊsɪs] n.【医】鱼鳞癣 网络鱼鳞病;第一节鱼鳞病;鱼鳞癣症 英汉 英英 网络释义 n. 1. 【医】鱼鳞癣 释义: 全部,鱼鳞癣,鱼鳞病,第一节鱼鳞病,鱼鳞癣症
Autosomal recessive congenital ichthyosis (ARCI) is a subgroup of non-syndromic ichthyosis, among which are included lamellar ichthyosis (LI; OMIM 242300), congenital ichthyosiform erythroderma (CIE; OMIM 242100) and harlequin ichthyosis (HI; OMIM 242500). There are also three other minor types of...
usually seen in babies who start with a collodion membrane that turns into large, white, and later brown, plate-like scales, while harlequin ichthyosis is a less common form of autosomal recessive congenital ichthyosis, where babies develop thick, tough, armor-like skin plates with deep fissures...
是什么意思 n. 鱼鳞癣; 英英释义 ichthyosis[ ,ikθi'əusis ] n.any of several congenital diseases in which the skin is fishlike (dry and scaly) 学习怎么用 双语例句 用作名词(n.) Because the case was not associated with ichthyosis or epidermal nevus, we think it best fits into the cat...
Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans. PLoS Genet. 2013;9:e1003536. 31. Hovnanian A. Netherton syndrome: skin inflammation and allergy by loss of protease inhibition. Cell Tissue Res. 2013;351:289–300. 32. Craiglow BG. Ichthyosis in the newborn. ...
Autosomal recessive congenital ichthyosis BMD: Bone mineral density CI: Confidence interval OR: Odds ratio PTH: Parathyroid hormone SD: Standard deviation VAS: Visual analog scale vitD: vitamin D UVB: Ultraviolet B References Oji V, Tadini G, Akiyama M, Blanchet Bardon C, Bodemer ...
Autosomal recessive ichthyosis with hypotrichosis (ARIH; MIM 602400) syndrome is characterized by diffused congenital ichthyosis and generalized non-scarring hypotrichosis. The underlying genetic cause of ARIH syndrome has...