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La sindrome di Liebenberg (chiamata anche … La sindrome di Liebenberg (chiamata anche Brachidattilia - displasia del gomito e del polso) è una rara malattia genetica autosomica data dalla mutazione del , che è responsabile dell'organizzazione del corpo, in particolare della formazione degli arti inferiori. Disattivando il gene sugli uccelli si è notato che i bozzetti delle ali assumevano strutture simili ad un arto. La condizione è stata descritta per la prima volta dal Dr. F. Liebenberg nel 1973 mentre seguiva diverse generazioni di una famiglia sudafricana, ma da allora è stata notata in altri lignaggi familiari in tutto il mondo.ltri lignaggi familiari in tutto il mondo.
, Liebenberg syndrome is a rare autosomal ge … 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. 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.in other family lineages across the world.
, Das Liebenberg-Syndrom ist eine angeborene … Das Liebenberg-Syndrom ist eine angeborene Fehlbildung der oberen Extremität mit dysplastischem Ellbogengelenk, Veränderungen der Handwurzelknochen und Brachytelephalangie (verkürzten Fingerendgliedern). Die Bezeichnung bezieht sich auf den Autor der Erstbeschreibung von 1973, den südafrikanischen Orthopäden F. Liebenberg.südafrikanischen Orthopäden F. Liebenberg.
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| rdfs:comment |
Liebenberg syndrome is a rare autosomal ge … 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. 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.in other family lineages across the world.
, Das Liebenberg-Syndrom ist eine angeborene … Das Liebenberg-Syndrom ist eine angeborene Fehlbildung der oberen Extremität mit dysplastischem Ellbogengelenk, Veränderungen der Handwurzelknochen und Brachytelephalangie (verkürzten Fingerendgliedern). Die Bezeichnung bezieht sich auf den Autor der Erstbeschreibung von 1973, den südafrikanischen Orthopäden F. Liebenberg.südafrikanischen Orthopäden F. Liebenberg.
, La sindrome di Liebenberg (chiamata anche … La sindrome di Liebenberg (chiamata anche Brachidattilia - displasia del gomito e del polso) è una rara malattia genetica autosomica data dalla mutazione del , che è responsabile dell'organizzazione del corpo, in particolare della formazione degli arti inferiori. Disattivando il gene sugli uccelli si è notato che i bozzetti delle ali assumevano strutture simili ad un arto. La condizione è stata descritta per la prima volta dal Dr. F. Liebenberg nel 1973 mentre seguiva diverse generazioni di una famiglia sudafricana, ma da allora è stata notata in altri lignaggi familiari in tutto il mondo.ltri lignaggi familiari in tutto il mondo.
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| rdfs:label |
Liebenberg syndrome
, Sindrome di Liebenberg
, Liebenberg-Syndrom
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