A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies-Reference-Cited by-同舟云学术

A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies

Published:2020-04-03 Issue:3 Volume:32 Page:420-423
ISSN:0953-7104
Container-title:Platelets
language:en
Short-container-title:Platelets

Author:

Michaud Vincent¹^ORCID,Fiore Mathieu²^ORCID,Coste Valentine³^ORCID,Huguenin Yoann⁴,Bordet Jean-Claude⁵^ORCID,Plaisant Claudio¹^ORCID,Lasseaux Eulalie¹^ORCID,Morice-Picard Fanny⁶^ORCID,Arveiler Benoit¹⁷^ORCID

Affiliation:

1. Service Génétique Médicale, CHU Bordeaux, Bordeaux, France

2. Service d’Hématologie Biologique, Centre de Référence des Pathologies Plaquettaires, CHU Bordeaux, Bordeaux, France

3. Service d’Ophtalmologie, CHU Bordeaux, Bordeaux, France

4. Centre de Ressources et de Compétences des Maladies Hémorragiques Constitutionnelles, CHU Bordeaux, Bordeaux, France

5. Laboratoire d’Hématologie, CHU Lyon, Lyon, France

6. Service de Dermatologie Pédiatrique, CHU Bordeaux, Bordeaux, France

7. INSERM U1211, Maladies Rares, Génétique et Métabolisme, Université de Bordeaux, Bordeaux, France

Publisher

Informa UK Limited

Subject

Hematology,General Medicine

Link

https://www.tandfonline.com/doi/pdf/10.1080/09537104.2020.1742315

Reference7 articles.

1. Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak–like primary immunodeficiency syndrome

2. Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics

3. Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9

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