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

Lynne Rumping*, Marja W. Wessels, Alex V. Postma, Joost van Schuppen, Marjon A. van Slegtenhorst, Jasper J. Saris, J. Peter van Tintelen, Stephen P. Robertson, Mariëlle Alders, Saskia M. Maas, Ronald H.Lekanne Deprez

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

52 Downloads (Pure)

Fingerprint

Dive into the research topics of 'Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant'. Together they form a unique fingerprint.

Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology