Hennekam Syndrome due to a Novel Homozygous CCBE1 Mutation Presenting as Pediatric-Onset Common Variable Immune Deficiency.
作者信息
Tessarin G, Baronio M, Gazzurelli L, Rossi S, Chiarini M, Moratto D, Badolato R, Lougaris V
机构信息
Pediatrics Clinic and Institute for Molecular Medicine ´A. Nocivelli´, Department of Clinical and Experimental Sciences, University of Brescia, ASST Spedali Civili of Brescia, Brescia, Italy.
Flow Cytometry Laboratory, Diagnostic Department, ASST Spedali Civili, Brescia, Italy.
出版信息
J Investig Allergol Clin Immunol. 2023 Dec 14;33(6):488-490. doi: 10.18176/jiaci.0895. Epub 2023 Feb 7.
PMID:36748365
Abstract
摘要
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