Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families-Reference-Cited by-同舟云学术

Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families

Published:2019-01-16 Issue:3 Volume:40 Page:288-298
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Youssefian Leila¹²³,Vahidnezhad Hassan¹⁴,Saeidian Amir Hossein¹³,Touati Andrew¹⁵,Sotoudeh Soheila⁶,Mahmoudi Hamidreza⁷,Mansouri Parvin⁸,Daneshpazhooh Maryam⁷,Aghazadeh Nessa⁷,Hesari Kambiz Kamyab⁹,Basiri Mohammadreza¹⁰,Londin Eric¹¹,Kumar Gaurav¹²,Zeinali Sirous⁴¹³,Fortina Paolo¹²¹⁴,Uitto Jouni¹¹⁵^ORCID

Affiliation:

1. Department of Dermatology and Cutaneous Biology; Sidney Kimmel Medical College at Thomas Jefferson University; Philadelphia PA USA

2. Department of Medical Genetics; School of Medicine; Tehran University of Medical Sciences; Tehran Iran

3. Genetics, Genomics and Cancer Biology PhD Program; Thomas Jefferson University; Philadelphia PA USA

4. Biotechnology Research Center; Department of Molecular Medicine; Pasteur Institute of Iran; Tehran Iran

5. Drexel University College of Medicine; Philadelphia PA USA

6. Department of Dermatology, Children's Medical Center; Pediatric Center of Excellence; Tehran University of Medical Sciences; Tehran Iran

7. Department of Dermatology, Razi Hospital; Tehran University of Medical Sciences; Tehran Iran

8. Skin and Stem Cell Research Center; Tehran University of Medical Sciences; Tehran Iran

9. Pathology Department, Razi Hospital; Tehran University of Medical Sciences; Tehran Iran

10. School of Medicine; Shahid Sadoughi University of Medical Sciences and Health Sciences; Yazd Iran

11. Computational Medicine Center; Sidney Kimmel Cancer Center; Thomas Jefferson University; Philadelphia PA USA

12. Sidney Kimmel Cancer Center; Department of Cancer Biology; Thomas Jefferson University; Philadelphia PA USA

13. Kawsar Human Genetics Research Center; Tehran Iran

14. Department of Molecular Medicine; Sapienza University; Rome Italy

15. Jefferson Institute of Molecular Medicine; Thomas Jefferson University; Philadelphia PA USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23695/fullpdf

Reference40 articles.

1. Next-generation sequencing to diagnose suspected genetic disorders;Adams;New England Journal of Medicine,2018

2. Specific TGM1 mutation profiles in bathing suit and self-improving collodion ichthyoses: Phenotypic and genotypic data from 9 patients with dynamic phenotypes of autosomal recessive congenital ichthyosis;Bourrat;Archives of Dermatology,2012

3. Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation;Boyden;British Journal of Dermatology,2017

4. Autosomal recessive congenital ichthyoses in the Czech Republic;Bučková;British Journal of Dermatology,2016

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