FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature
Abstract Background Mutations in the X-linked gene filamin A (FLNA), encoding the actin-binding protein FLNA, cause a wide spectrum of connective tissue, skeletal, cardiovascular and/or gastrointestinal manifestations. Males are typically more severely affected than females with common pre- or perin...
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BMC,
2018-09-01T00:00:00Z.
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A1234.567 |
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