Netherton syndrome caused by compound heterozygous mutation, c.80A>G mutation in SPINK5 and large‐sized genomic deletion mutation, and successful treatment of intravenous immunoglobulin

BACKGROUND: Netherton syndrome (NS) is an autosomal recessive disorder due to mutations in the SPINK5 gene. Here, we report the first case of NS caused by a large genomic deletion. METHODS: We present the clinical data of a 3‐year‐old Chinese boy who was initially misdiagnosed with severe atopic der...

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Publicado en:Mol Genet Genomic Med
Main Authors: Zhang, Zhen, Pan, Chaolan, Wei, Ruoqu, Li, Huaguo, Yang, Yijun, Chen, Jiawen, Li, Ming, Yao, Zhirong
Formato: Artigo
Idioma:Inglês
Publicado: John Wiley and Sons Inc. 2021
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Original Articles
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC8104177/
https://ncbi.nlm.nih.gov/pubmed/33452875
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1600
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