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...

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Detalles Bibliográficos
Autores principales: Tanner, Laura M., Kunishima, Shinji, Lehtinen, Elina, Helin, Tuukka, Volmonen, Kirsi, Lassila, Riitta, Pöyhönen, Minna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Original Articles
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

Internet

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

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