Matches in DBpedia 2016-04 for { ?s ?p "Liebenberg Syndrome is a rare autosomal genetic disease that involves a deletion mutation upstream of the PITX1 gene, which is one that's responsible for the body's organization, specifically in forming lower limbs. In animal studies, when this deletion was introduced to developing birds, their wing buds were noted to take on limb-like structures. People who are affected by Liebenberg Syndrome suffer from three main symptoms: Dysplasia (improper formation) of the bony components of the elbow Abnormal shape of carpal bones Brachydactyly, a symptom where the fingers and toes are shorter than normal.The condition was first described by Dr. F. Liebenberg in 1973 while he followed multiple generations of a South African family, but it has since been noticed in other family lineages across the world."@en }
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- Liebenberg_syndrome abstract "Liebenberg Syndrome is a rare autosomal genetic disease that involves a deletion mutation upstream of the PITX1 gene, which is one that's responsible for the body's organization, specifically in forming lower limbs. In animal studies, when this deletion was introduced to developing birds, their wing buds were noted to take on limb-like structures. People who are affected by Liebenberg Syndrome suffer from three main symptoms: Dysplasia (improper formation) of the bony components of the elbow Abnormal shape of carpal bones Brachydactyly, a symptom where the fingers and toes are shorter than normal.The condition was first described by Dr. F. Liebenberg in 1973 while he followed multiple generations of a South African family, but it has since been noticed in other family lineages across the world.".
- Q6543864 abstract "Liebenberg Syndrome is a rare autosomal genetic disease that involves a deletion mutation upstream of the PITX1 gene, which is one that's responsible for the body's organization, specifically in forming lower limbs. In animal studies, when this deletion was introduced to developing birds, their wing buds were noted to take on limb-like structures. People who are affected by Liebenberg Syndrome suffer from three main symptoms: Dysplasia (improper formation) of the bony components of the elbow Abnormal shape of carpal bones Brachydactyly, a symptom where the fingers and toes are shorter than normal.The condition was first described by Dr. F. Liebenberg in 1973 while he followed multiple generations of a South African family, but it has since been noticed in other family lineages across the world.".