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

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Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology