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Platelet function and filamin A expression in two families with novel FLNA gene mutations associated with periventricular nodular heterotopia and panlobular emphysema
Pathogenic variants of the X‐linked FLNA gene encoding filamin A protein have been associated with a wide spectrum of symptoms, including the recently described pulmonary phenotype with childhood‐onset panlobular emphysema. We describe three female patients from two families with novel heterozygous...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons, Inc.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9303863/ https://www.ncbi.nlm.nih.gov/pubmed/35156755 http://dx.doi.org/10.1002/ajmg.a.62690 |