Pathogenic effect of a <i>TGFBR1</i> mutation in a family with Loeys–Dietz syndrome
Luc Cozijnsen(Gelre Hospitals), Dimitra Micha(Amsterdam Neuroscience), Gerard Pals(University Medical Center Groningen), Hans W.M. Niessen(Vrije Universiteit Amsterdam), Jan G. Post, Daniela Q.C.M. Barge‐Schaapveld(Leiden University), Astrid S. Plomp, Marie‐José Goumans(Leiden University Medical Center), Kak Khee Yeung(Amsterdam University Medical Centers), Natalija Bogunovic(Amsterdam Neuroscience)
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