Brachydactyly is a congenital condition, meaning you're born with it. When you have it, your fingers and toes are much shorter than average compared to the size of your body. There are many types ...

最近，美国宾夕法尼亚州立大学的研究人员发现，一个关键蛋白质的缺失，可导致骨骼发育缺陷，包括骨密度减少、手指和脚趾的缩短——称为短指症（brachydactyly）。他们在小鼠中敲除了Speckle-type POZ蛋白（Spop），并描述了对骨发育的影响。这项研究结果于12月5日发表在美国国家科学院院刊PANS上。

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 ...

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 ...

Gene responsible for hypertension, brachydactyly identified Date: May 11, 2015 Source: Max Delbrueck Center for Molecular Medicine (MDC) Berlin-Buch ...

Individuals with this altered gene have hereditary hypertension (high blood pressure) and at the same time a skeletal malformation called brachydactyly type E, which is characterized by unusually ...

Brachydactyly is a more general term that is used when a person has webbed, underdeveloped, or missing fingers or toes. Brachydactyly can affect either your hands or feet and often affects both ...