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

Original language	English
Pages (from-to)	3814-3820
Number of pages	7
Journal	American journal of medical genetics. Part A
Volume	185
Issue number	12
Early online date	2021
DOIs	https://doi.org/10.1002/ajmg.a.62417
Publication status	Published - Dec 2021

FLNA, cardiomyopathy, filaminopathies, phenotype–genotype correlation, terminal osseous dysplasia with pigmentary defects

ID: 19048037

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