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

Hermansky-Pudlak syndrome (HPS) is a rare form of syndromic oculocutaneous albinism caused by disorders in lysosome‐related organelles. Ten genes are associated with different forms of HPS. HPS type 9 (HPS-9) is caused by biallelic variants of BLOC1S6. To date, only three patients with HPS-9 have be...

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Detalhes bibliográficos

Principais autores:	Vincent Michaud, Mathieu Fiore, Valentine Coste, Yoann Huguenin, Jean-Claude Bordet, Claudio Plaisant, Eulalie Lasseaux, Fanny Morice-Picard, Benoit Arveiler
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Taylor & Francis Group 2021-04-01
coleção:	Platelets
Assuntos:	albinism hermansky-pudlak syndrome
Acesso em linha:	http://dx.doi.org/10.1080/09537104.2020.1742315
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