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A Novel Homozygous Variant in GAS2L2 in Two Sisters with Primary Ciliary Dyskinesia
Primary ciliary dyskinesia (PCD) is a rare hereditary disease. We herein report two sisters in their 20s with suspected PCD. They were both born at full term and did not have situs inversus. Chest computed tomography showed similar signs of bronchiectasis in both siblings. Genetic examinations of th...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Japanese Society of Internal Medicine
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9556235/ https://www.ncbi.nlm.nih.gov/pubmed/36104176 http://dx.doi.org/10.2169/internalmedicine.8884-21 |