Nature: Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations? Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations? Individuals with a newly discovered altered gene have hereditary hypertension and a skeletal malformation, brachydactyly type E, which is characterized by unusually short fingers and toes, scientists ...
EurekAlert!: MDC and Charité researchers identify gene responsible for hypertension and brachydactyly The patients have single short fingers (metacarpals) and toes (metatarsals) and can be restricted in growth due to a shortened skeleton. This hereditary disease is called brachydactyly type E. Now, ... Nature: Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog Mutations in the gene Indian Hedgehog (IHH) that cause Brachydactyly A-1 (BDA1) have been restricted to a specific region of the N-terminal active fragment of Indian Hedgehog involving codons 95, 100, ...
brachydactyly, Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog
