ライフサイエンスコーパス: ichthyosiform

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1 s characterized by colobomas, heart defects, ichthyosiform dermatosis, mental retardation (intellectu

2 nkel's Keratoderma manifesting an associated ichthyosiform dermatosis.

3 s into skin biochemistry and the etiology of ichthyosiform diseases in humans.

4 r NLSDI, but also in several other inherited ichthyosiform disorders of lipid metabolism, such as rec

5 Bullous congenital ichthyosiform erythroderma (BCIE) is characterized by bl

6 scales has been termed nonbullous congenital ichthyosiform erythroderma (CIE).

7 Nonbullous congenital ichthyosiform erythroderma (NCIE) is a nonsyndromic form

8 comparison with cases of bullous congenital ichthyosiform erythroderma also due to keratin 1 mutatio

9 ype 2 (CDPX2), congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndr

10 patients with Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) synd

11 ta type 2, and congenital hemidysplasia with ichthyosiform erythroderma and limb defects.

12 chthyosis at one pole and classic congenital ichthyosiform erythroderma at the other.

13 or the human skin disease bullous congenital ichthyosiform erythroderma by gene targeting.

14 We investigated the pathogenesis of the ichthyosiform erythroderma in patients from three unrela

15 nct phenotypic variant of bullous congenital ichthyosiform erythroderma that has recently been descri

16 of multisystem abnormalities and a pruritic ichthyosiform erythroderma, are together diagnostic of N

17 ystemic disorder characterized by congenital ichthyosiform erythroderma, hair shaft defects and atopy

18 notyped patients with ichthyosis (congenital ichthyosiform erythroderma, n = 6; lamellar ichthyosis,

19 e distinct from classical bullous congenital ichthyosiform erythroderma.

20 HILD syndrome (congenital hemidysplasia with ichthyosiform nevus and limb defects), an X-linked, male

21 ctive gene in the severe autosomal recessive ichthyosiform skin condition, Netherton syndrome (NS).

22 sis (NLSDI; Chanarin-Dorfman syndrome) is an ichthyosiform syndrome, often associated with mutations

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