Intrafamilial clinical variability in four families with incontinentia pigmenti-Reference-Cited by-同舟云学术

Intrafamilial clinical variability in four families with incontinentia pigmenti

Published:2018-08-27 Issue:11 Volume:176 Page:2318-2324
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Mariath Luiza M.¹,Santa Maria Fernanda D.²,Poziomczyk Cláudia S.²³,Travi Giovanni M.⁴,Wachholz Gabriela E.¹,De Souza Stephanie R.¹,Kiszewski Ana E.³⁴⁵,Schuler-Faccini Lavínia¹^ORCID

Affiliation:

1. Postgraduate Program in Genetics and Molecular Biology, Department of Genetics, Biosciences Institute; Universidade Federal do Rio Grande do Sul (UFRGS); Porto Alegre Brazil

2. Postgraduate Program in Pathology; Universidade Federal de Ciências da Saúde de Porto Alegre; Porto Alegre Brazil

3. Section of Dermatology; Universidade Federal de Ciências da Saúde de Porto Alegre; Porto Alegre Brazil

4. Santa Casa de Misericórdia de Porto Alegre; Porto Alegre Brazil

5. Section of Pediatric Dermatology; Hospital da Criança Santo Antônio, Irmandade da Santa Casa de Misericórdia de Porto Alegre; Porto Alegre Brazil

Funder

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.40497/fullpdf

Reference26 articles.

1. A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations;Aradhya;Human Molecular Genetics,2001

2. Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma gene deletion;Bardaro;Human Mutation,2003

3. Incontinentia pigmenti: Variable disease expression within an affected family;Basarab;Journal of the European Academy of Dermatology and Venereology,1998

4. Whorled scarring alopecia: A rare phenomenon in incontinentia pigmenti;Chan;Journal of the American Academy of Dermatology,2003

5. Variable expression of retinopathy in a pedigree of patients with incontinentia pigmenti;Chen;Retina,2015

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