Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features
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DOI: 10.1002/mgg3.969
Abstract: 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… read more here.
Keywords: variant bmpr1a; bmpr1a resulting; homozygous missense; bmpr1a ... See more keywords