Two novel gene mutations identified in a child with pulmonary alveolar microlithiasis complicated with bronchitis obliterans: A case report and literature review

We reported a case of a 7‐year‐old boy with pulmonary alveolar microlithiasis (PAM) and detected two novel compound heterozygous mutations of solute carrier family 34 member 2 (SLC34A2), EXON:2–6 duplication and c.1218 (EXON:11) C > A (p. Phe406Leu). His symptoms were nonspecific. Chest computed...

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Detalles Bibliográficos
Autores principales: Zhang, Meiyu, Gao, Man, Liu, Yuhuan, Wang, Kun, Zhou, Siyan, Jing, Haoran, Yin, Guo, Meng, Fanzheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10415588/
https://www.ncbi.nlm.nih.gov/pubmed/37575464
http://dx.doi.org/10.1002/ccr3.7726

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