Clinical variability and probable founder effect in oculocutaneous albinism type 7-Reference-Cited by-同舟云学术

Clinical variability and probable founder effect in oculocutaneous albinism type 7

Published:2019-11-06 Issue:3 Volume:97 Page:527-528
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Bataille Pauline¹^ORCID,Michaud Vincent²,Robert Matthieu P.³,Bekel Lilia¹,Leclerc‐Mercier Stéphanie⁴,Harroche Annie⁵,Célérier Charlotte⁶,Lasseaux Eulalie²,Borgel Delphine⁵,Bremond‐Gignac Dominique³,Bodemer Christine¹,Arveiler Benoit²⁷,Hadj‐Rabia Smaïl¹

Affiliation:

1. Reference Centre for Genodermatoses and Rare Skin Disease (MAGEC) and Department of DermatologyFilière Maladies Rares Dermatologiques (FIMARAD), ERN‐Skin Hôpital Necker‐Enfants Malades, Université de Paris‐Centre Paris France

2. Molecular Genetics LaboratoryCHU de Bordeaux Bordeaux France

3. Reference Centre for Rare Ocular Diseases (OPHTARA) and Department of Ophthalmology, Hôpital Necker‐Enfants Malades, APHPUniversité de Paris‐Centre Paris France

4. Pathology, Hôpital Necker‐Enfants Malades, APHPUniversité de Paris‐Centre Paris France

5. Hematology, Hôpital Necker‐Enfants Malades, APHPUniversité de Paris‐Centre Paris France

6. Head&Neck Surgery, Hôpital Necker‐Enfants Malades, APHPUniversité de Paris‐Centre Paris France

7. Unité INSERM U1211, Maladies RaresGénétique et Métabolisme Bordeaux France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13655

Reference4 articles.

1. Molecular characterization of a series of 990 index patients with albinism

2. Mutations in C10orf11, a Melanocyte-Differentiation Gene, Cause Autosomal-Recessive Albinism

3. Novel genes involved in canonical Wnt/β-catenin signaling pathway in early Ciona intestinalis embryos

4. Lineage-specific requirements of β-catenin in neural crest development

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1. New Progress in Molecular Genetics Research of Albinism;Journal of Contemporary Medical Practice;2024-08-21

2. Management of albinism: French guidelines for diagnosis and care;Journal of the European Academy of Dermatology and Venereology;2021-05-27

3. Oculocutaneous Albinism Type 7 with Recurrent Infections: A Case Report;Asthma Allergy Immunology;2021-04-30