Ichthyosis Prematurity Syndrome: A Case Report and Review of Known Mutations-Reference-Cited by-同舟云学术

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Ichthyosis Prematurity Syndrome: A Case Report and Review of Known Mutations

Published:2014-05-29 Issue:4 Volume:31 Page:517-518
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:

Author:

Kiely Clare¹,Devaney Deirdre²,Fischer Judith³,Lenane Patricia¹,Irvine Alan D.⁴⁵

Affiliation:

1. Department of Paediatric Dermatology; Children's University Hospital; Dublin Ireland

2. Department of Pathology; Children's University Hospital; Dublin Ireland

3. Institute for Human Genetics; University Medical Center Freiburg; Freiburg Germany

4. Paediatric Dermatology; Our Lady's Children's Hospital; Dublin Ireland

5. Clinical Medicine; Trinity College Dublin; Dublin Ireland

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/pde.12320/fullpdf

Reference4 articles.

1. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009;Oji;J Am Acad Dermatol,2010

2. Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome;Klar;Am J Hum Genet,2009

3. FATP4 missense and nonsense mutations cause similar features in ichthyosis prematurity syndrome;Sobol;BMC Res Notes,2011

4. A novel mutation in the fatty acid transport protein 4 gene in a patient initially described as affected by self-healing congenital verruciform hyperkeratosis;Morice-Picard;Am J Med Genet,2010

Cited by 20 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. First documented case of ichthyosis prematurity syndrome in Iraq: A case report with literature review;Radiology Case Reports;2024-12

2. Highlights of Gene and Cell Therapy for Epidermolysis Bullosa and Ichthyosis;Dermatology and Therapy;2024-08-07

3. Disorders of fatty acid homeostasis;Journal of Inherited Metabolic Disease;2024-05

4. Myeloid-specific fatty acid transport protein 4 deficiency induces a sex-dimorphic susceptibility for nonalcoholic steatohepatitis in mice fed a high-fat, high-cholesterol diet;American Journal of Physiology-Gastrointestinal and Liver Physiology;2023-05-01

5. Congenital Ichthyosis: Clinical and Genetic Characteristics of the Disease;Current Pediatrics;2022-11-07

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