Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient.

Moradian, Negar; Zoghi, Samaneh; Rayzan, Elham; Seyedpour, Simin; Jimenez Heredia, Raul; Boztug, Kaan; Rezaei, Nima

Moradian, Negar; Zoghi, Samaneh; Rayzan, Elham; Seyedpour, Simin; Jimenez Heredia, Raul; Boztug, Kaan; Rezaei, Nima.

Afiliação

Moradian N; School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Zoghi S; Research Center for Immunodeficiencies (RCID), Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Rayzan E; Research Center for Immunodeficiencies (RCID), Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Seyedpour S; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
Jimenez Heredia R; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria.
Boztug K; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
Rezaei N; Research Center for Immunodeficiencies (RCID), Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

Allergy Asthma Clin Immunol ; 19(1): 51, 2023 Jun 09.

Article em En | MEDLINE | ID: mdl-37296469

Palavras-chave

G6PC3 deficiency; Severe congenital neutropenia; Whole exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Allergy Asthma Clin Immunol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Irã País de publicação: Reino Unido

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