The parents of both patients, reported in this study, were first cousins and 2 × 2 siblings. The pedigree is depicted in Figure 1. The proband (III.1) was a 22-year-old male born with an intrauterine ...
The diagnostic criteria of Marfan syndrome (MFS) highlight the importance of a FBN1 mutation test in diagnosing MFS. As genetic sequencing becomes better, cheaper, and more accessible, the expected ...
Chinese scientists used CRISPR gene therapy to correct a mutation that causes Marfan syndrome, an incurable connective tissue disorder that affects about 1 in 5,000 people. A single letter mistake in ...
Genetic alterations may partly explain why Peruvians are one of the shortest peoples in the world: on average, men are 1.65 meters tall and women are 1.53 meters tall. Researchers led by physician and ...
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