Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation-Reference-Cited by-同舟云学术

Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation

Published:2017-06-07 Issue:1 Volume:177 Page:319-322
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Boyden L.M.¹,Craiglow B.G.²³,Hu R.H.²,Zhou J.²,Browning J.⁴,Eichenfield L.⁵,Lim Y.L.⁶,Luu M.⁷,Randolph L.M.⁸,Ginarte M.⁹,Fachal L.¹⁰,Rodriguez-Pazos L.¹¹,Vega A.¹⁰,Kramer D.¹²,Yosipovitch G.¹³,Vahidnezhad H.¹⁴,Youssefian L.¹⁴,Uitto J.¹⁴^ORCID,Lifton R.P.¹,Paller A.S.¹⁵,Milstone L.M.²,Choate K.A.¹²¹⁶^ORCID

Affiliation:

1. Department of Genetics; Yale University School of Medicine; PO Box 208059 New Haven CT 06520 U.S.A

2. Department of Dermatology; Yale University School of Medicine; PO Box 208059 New Haven CT 06520 U.S.A

3. Department of Pediatrics; Yale University School of Medicine; PO Box 208059 New Haven CT 06520 U.S.A

4. Department of Dermatology; Baylor College of Medicine; San Antonio TX U.S.A

5. Department of Dermatology; University of California San Diego; San Diego CA U.S.A

6. Department of Dermatology; National Skin Centre; Singapore Singapore

7. Division of Dermatology; Children's Hospital of Los Angeles; Los Angeles CA U.S.A

8. Division of Medical Genetics; Children's Hospital of Los Angeles; Los Angeles CA U.S.A

9. Department of Dermatology; Complejo Hospitalario Universitario; Santiago de Compostela Spain

10. Fundación Pública Galega de Medicina Xenómica-SERGAS; Grupo de Medicina Xenómica-USC; CIBERER; IDIS; Santiago de Compostela Spain

11. Servicio de Dermatología; Complejo Hospitalario Universitario de Vigo; Vigo Spain

12. Department of Dermatology; Hospital Luis Calvo Mackenna; Santiago Chile

13. Department of Dermatology and Cutaneous Surgery; Miller School of Medicine; Miami FL U.S.A

14. Department of Dermatology; Sidney Kimmel Medical College; Thomas Jefferson University; Philadelphia PA U.S.A

15. Department of Dermatology; Feinberg School of Medicine; Northwestern University; Chicago IL U.S.A

16. Department of Pathology; Yale University School of Medicine; PO Box 208059 New Haven CT 06520 U.S.A

Funder

National Institutes of Health

Yale Center for Mendelian Genomics

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjd.15570/fullpdf

Reference10 articles.

1. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans;Grall;Nat Genet,2012

2. Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family;Lee;J Dermatol Sci,2016

3. A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families;Ahmad;J Eur Acad Dermatol Venereol,2016

4. Spectrum of autosomal recessive congenital ichthyosis in Scandinavia: clinical characteristics and novel and recurrent mutations in 132 patients;Hellström Pigg;Acta Derm Venereol,2016

5. Gene-targeted next generation sequencing identifies PNPLA1 mutations in patients with a phenotypic spectrum of autosomal recessive congenital ichthyosis: the impact of consanguinity;Vahidnezhad;J Invest Dermatol,2016

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