Trisomic rescue causing reduction to homozygosity for a novelABCA12mutation in harlequin ichthyosis
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2009.01198.x/fullpdf
Reference28 articles.
1. Harlequin ichthyiosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms;Akiyama;J Dermatol Sci,2006
2. Harlequin ichthyosis unmasked: a defect of lipid transport;Hovnanian;J Clin Invest,2005
3. Pathophysiologic basis for growth failure in children with ichthyosis: an evaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure;Moskowitz;J Pediatr,2004
4. Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2;Lefévre;Hum Mol Genet,2003
5. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer;Akiyama;J Clin Invest,2005
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2. Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy;Frontiers in Genetics;2022-08-08
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4. Obesity and developmental delay in a patient with uniparental disomy of chromosome 2;International Journal of Obesity;2016-09-22
5. Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances;Epigenomics;2016-06
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