| 概要 |
Boudin-Mortier syndrome is a novel syndrome characterized by tall stature, long digits, and variable connective tissue abnormalities, including aortic dilatation and joint hypermobility. It has been reported that mutations in NPR3 cause this disease. NPR3 encodes the atrial natriuretic peptide clearance receptor.
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| 著者 |
Boudin E, de Jong TR, Prickett TCR, Lapauw B, Toye K, Van Hoof V, Luyckx I, Verstraeten A, Heymans HSA, Dulfer E, Van Laer L, Berry IR, Dobbie A, Blair E, Loeys B, Espiner EA, Wit JM, Van Hul W, Houpt P, Mortier GR |
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