Hermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations.

Loredana Asztalos, Manuela; Schafernak, Kristian T; Gray, Jayla; Berry, Adam; Paller, Amy S; Mancini, Anthony J

Loredana Asztalos, Manuela; Schafernak, Kristian T; Gray, Jayla; Berry, Adam; Paller, Amy S; Mancini, Anthony J.

Afiliação

Loredana Asztalos M; Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
Schafernak KT; Department of Pediatrics, Pathology and Laboratory Medicine , Northwestern University, Chicago, IL, USA.
Gray J; Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
Berry A; Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
Paller AS; Department of Pediatrics, Pathology and Laboratory Medicine , Northwestern University, Chicago, IL, USA.
Mancini AJ; Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.

Pediatr Dermatol ; 34(6): 638-646, 2017 Nov.

Article em En | MEDLINE | ID: mdl-29044644

Assuntos

Síndrome de Hermanski-Pudlak/diagnóstico; Proteínas de Membrana/genética; Plaquetas/patologia; Diagnóstico Diferencial; Síndrome de Hermanski-Pudlak/genética; Síndrome de Hermanski-Pudlak/terapia; Humanos; Lactente; Masculino; Mutação

Palavras-chave

Hermansky-Pudlak syndrome; adaptor protein 3; beta 1 subunit; biogenesis of lysosome-related organelles complex; chediak-higashi syndrome; dystrobrevin binding protein 1; griscelli syndrome; lysosome-related organelles; oculocutaneous albinism; platelet dense granules

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Hermanski-Pudlak / Proteínas de Membrana Tipo de estudo: Diagnostic_studies / Guideline Limite: Humans / Infant / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article

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