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Abnormality of limbs
- ... of p120-RasGAP leads to the specific vascular abnormalities and limb overgrowth that occur in Parkes Weber syndrome. More ...
- ... of Notch1 function leads to the scalp and limb abnormalities characteristic of the condition. Researchers suggest these features ...
- ... of DLL4 function leads to the scalp and limb abnormalities characteristic of the condition. Researchers suggest these features ...
- ... gene mutations have been found to cause lower limb abnormalities, including an inward- and upward-turning foot (clubfoot) ... toes (polydactyly), specifically a severe form of the abnormality called ... of the lower limbs. The upper limbs are normal in individuals with ...
- ... the arms and legs, leading to the craniofacial abnormalities and shortened limbs seen in people with osteoglophonic dysplasia. This overactive ...
- ... to cause Roberts syndrome, which is characterized by limb and facial abnormalities and slow growth before and after birth. These ...
- ... loricrin keratoderma. This disorder is characterized by skin abnormalities including widespread dry, scaly skin (ichthyosis), especially on the limbs. The mutations that cause the variant form of ...
- ... paralysis), changes in heart rhythm (arrhythmia), and physical abnormalities affecting the face, other parts of the head, and the limbs. Most of the mutations change a single protein ...
- ... formation of bones in the face, spine, and limbs. These changes lead to the skeletal abnormalities characteristic of Robinow syndrome. A lack of this ...
- ... of signs and symptoms, which can include bone abnormalities; mottled or patchy skin coloring; and loss of fatty tissue under the skin, particularly affecting the limbs (type A lipodystrophy). The LMNA gene mutations that ...
