First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report
Abstract Background Loeys-Dietz syndrome (LDS) is a rare multisystemic disorder characterized by vascular and skeletal abnormalities, with considerable intra- and interfamilial variability. Case presentation We report the case of an 8-year-old male with clinical features of two distinct genetic diso...
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Main Authors: | , , , , , , , , , , , |
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Format: | Book |
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BMC,
2018-09-01T00:00:00Z.
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A1234.567 |
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