Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant

Terminal osseous dysplasia with pigmentary defects (TODPD), also known as digitocutaneous dysplasia, is one of the X‐linked filaminopathies caused by a variety of FLNA‐variants. TODPD is characterized by skeletal defects, skin fibromata and dysmorphic facial features. So far, only a single recurrent...

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Detalles Bibliográficos
Autores principales: Rumping, Lynne, Wessels, Marja W., Postma, Alex V., van Schuppen, Joost, van Slegtenhorst, Marjon A., Saris, Jasper J., van Tintelen, J. Peter, Robertson, Stephen P., Alders, Mariëlle, Maas, Saskia M., Deprez, Ronald H. Lekanne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Regular Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9292317/
https://www.ncbi.nlm.nih.gov/pubmed/34254723
http://dx.doi.org/10.1002/ajmg.a.62417

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