Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features

Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features

Abstract Background The bone morphogenetic protein (BMP) pathway is known to play an imperative role in bone, cartilage, and cardiac tissue formation. Truncating, heterozygous variants, and deletions of one of the essential receptors in this pathway, Bone Morphogenetic Protein Receptor Type1A (BMPR1...

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Bibliographic Details
Main Authors: Bianca E. Russell, Diana Rigueur, Kathryn N. Weaver, Kristen Sund, Janet S. Basil, Robert B. Hufnagel, Cynthia A. Prows, Alan Oestreich, Lihadh Al‐Gazali, Robert J Hopkin, Howard M. Saal, Karen Lyons, Andrew Dauber
Format: Article
Language:English
Published: Wiley 2019-11-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
atrial septal defect
BMP
bmpr1a protein
bone morphogenetic protein
human
Online Access:https://doi.org/10.1002/mgg3.969

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