Lamellar Ichthyosis in a Female Neonate with a Novel Mutation on TGM1 Gene
Author:
Publisher
Pediatric Oncall Pvt Ltd
Subject
General Medicine
Reference9 articles.
1. Terrinoni A, Serra V, Codispoti A, Talamonti E, Bui L, Palombo R, Sette M, Campione E, Didona B, Annicchiarico-Petruzzelli M, Zambruno G, Melino G, Candi E. Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis. Cell Death Dis. 2012 Oct 25;3(10):e416. doi: 10.1038/cddis.2012.152. PMID: 23096117; PMCID: PMC3481139.
2. Oji V, Tadini G, Akiyama M, Blanchet Bardon C, Bodemer C, Bourrat E, Coudiere P, DiGiovanna JJ, Elias P, Fischer J, Fleckman P; et al. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Soreze 2009. J Am Acad Dermatol. 2010 Oct;63(4):607-41. doi: 10.1016/j.jaad.2009.11.020. PMID: 20643494.
3. Pigg MH, Bygum A, Ganemo A, Virtanen M, Brandrup F, Zimmer AD, Hotz A, Vahlquist A, Fischer J. Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients. Acta Derm Venereol. 2016 Nov 2;96(7):932-937. doi: 10.2340/00015555-2418. PMID: 27025581.
4. Vahlquist A, Fischer J, Torma H. Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment. Am J Clin Dermatol. 2018 Feb;19(1):51-66. doi: 10.1007/s40257-017-0313-x. PMID: 28815464; PMCID: PMC5797567.
5. Rubio-Gomez GA, Weinstein M, Pope E. Development of a disease severity score for newborns with collodion membrane. J Am Acad Dermatol. 2014 Mar;70(3):506-11. doi: 10.1016/j.jaad.2013.11.002. Epub 2013 Dec 24. PMID: 24373778.
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