Short stature, optic nerve atrophy and Pelger-Huët anomaly syndrome with antibody immunodeficiency and aplastic anemia : a case report and literature review

Objective: To investigate the clinical features and genetic characteristics of cases with NBAS gene defects. Method: Characteristics of clinical materials, immunological data and gene mutation of the first case in China with NBAS gene mutation were retrospectively analyzed. The related literature wa...

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Veröffentlicht in:	Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 55(2017), 12 vom: 02. Dez., Seite 942-946
1. Verfasser:	He, T Y (VerfasserIn)
Weitere Verfasser:	Zhang, N, Xia, Y, Luo, Y, Li, C R, Yang, J
Format:	Online-Aufsatz
Sprache:	Chinese
Veröffentlicht:	2017
Zugriff auf das übergeordnete Werk:	Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:	Case Reports Journal Article Review Anemia, aplastic Genetic diseases Immunologic deficiency syndrome Liver failure