Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis
<p><strong>Background </p></strong>SMAD6 encodes an intracellular inhibitor of the bone morphogenetic protein (BMP) signalling pathway. Until now, rare heterozygous loss-of-function variants in SMAD6 were demonstrated to increase the risk of disparate clinical disorders inclu...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
BMJ Publishing Group
2024
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