Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting-Reference-Cited by-同舟云学术

Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting

Published:2017-10-21 Issue:2 Volume:31 Page:318-329
ISSN:1755-1471
Container-title:Pigment Cell & Melanoma Research
language:en
Short-container-title:Pigment Cell Melanoma Res.

Author:

Marti Aurélie¹^ORCID,Lasseaux Eulalie²,Ezzedine Khaled³,Léauté-Labrèze Christine¹,Boralevi Franck¹,Paya Clément⁴,Coste Valentine⁴,Deroissart Vincent⁵,Arveiler Benoit²⁶,Taieb Alain¹⁷^ORCID,Morice-Picard Fanny¹²^ORCID

Affiliation:

1. Paediatric Dermatology Unit; National Reference Center for Rare Skin Disorders; Hôpital Pellegrin-Enfants; Bordeaux University Hospitals; Bordeaux France

2. Molecular Genetics Laboratory; CHU de Bordeaux; Bordeaux France

3. Department of Dermatology; AP-HP; Hôpital Henri-Mondor; Créteil France

4. Ophthalmology Department; CHU de Bordeaux; Bordeaux France

5. Institute of Public Health; Epidemiology and Development “ISPED”; Bordeaux University; Bordeaux France

6. Unité INSERM U1211; Maladies Rares: Génétique et Métabolisme; Bordeaux France

7. Unité INSERM 1035; BMGIC; Immuno-dermatology ATIP-AVENIR; University of Bordeaux; Bordeaux France

Publisher

Wiley

Subject

Dermatology,General Biochemistry, Genetics and Molecular Biology,Oncology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/pcmr.12651/fullpdf

Reference38 articles.

1. The genetics of pigmentation: from fancy genes to complex traits;Barsh;Trends in Genetics,1996

2. Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: A new subtype of albinism classified as “OCA3”;Boissy;American Journal of Human Genetics,1996

3. New leukocyte anomaly of constitutional and familial character;Chediak;Revue d'hematologie,1952

4. A case of Asian Indian OCA3 patient;Chiang;American Journal of Medical Genetics. Part A,2009

5. Oculocutaneous albinism type 1: Link between mutations, tyrosinase conformational stability, and enzymatic activity;Dolinska;Pigment Cell and Melanoma Research,2017

Cited by 32 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. Genotype–Phenotype Correlation Model for the Spectrum of TYR-Associated Albinism;Diagnostics;2024-07-23

2. Genotypic spectrum of albinism in Mali;Pigment Cell & Melanoma Research;2024-05-09

3. What Have We Learned about the Prevention of NMSC from Albino Patients from Malawi? Secondary Prevention Maintained over Time;Cancers;2024-04-16

4. Clinical and mutational characteristics of oculocutaneous albinism type 7;Scientific Reports;2024-03-30

5. Genetic Disorders of Pigmentation;Rook's Textbook of Dermatology;2024-03-19