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Brachydactyly Type C
Review Articles from PubMed
Editorials from PubMed
Research Articles from PubMed
We report on a Brachydactyly Type C (BDC) patient with clinically inconspicuous parents. Molecular genetic analyses revealed compound heterozygosity for two GDF5 variants. The variant c.956G>T (p.Gly319Val) was inherited from her mother and has been reported in exome sequencing projects, ...