The role of abnormalities in the distal pathway of cholesterol synthesis in the Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome

Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids

Volumn 1841, Issue 3, 2014, Pages 345-352

  Seeger, Mark A ^a   Paller, Amy S ^a  

^a NORTHWESTERN UNIVERSITY   (United States)

Author keywords

CHILD syndrome; Ichthyosis; Lipids; Lovastatin; Statin; X inactivation

Indexed keywords

CHOLESTEROL; CORTICOSTEROID; EMOLLIENT AGENT; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; KERATIN; METHOTREXATE; RETINOID; XIPAMIDE;

ALLELE; CHOLESTEROL SYNTHESIS; CHROMOSOME XQ; CLINICAL FEATURE; CONGENITAL DISORDER; CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECT SYNDROME; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; GENETIC HETEROGENEITY; HUMAN; KERATINOCYTE; LIMB DEFECT; LOSS OF FUNCTION MUTATION; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SIGNAL TRANSDUCTION; SKIN GRAFT; TOPICAL TREATMENT;

CHILD SYNDROME; ICHTHYOSIS; LIPIDS; LOVASTATIN; STATIN; X-INACTIVATION;

3-HYDROXYSTEROID DEHYDROGENASES; ABNORMALITIES, MULTIPLE; CHOLESTEROL; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; LIMB DEFORMITIES, CONGENITAL; MALE; MUTATION;

EID: 84896697688     PISSN: 13881981     EISSN: 18792618     Source Type: Journal    
DOI: 10.1016/j.bbalip.2013.09.006     Document Type: Review

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