Alteration of the LIS1 gene in Japanese patients with isolated lissencephaly sequence or Miller-Dieker syndrome |
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| Authors: | M Sakamoto J Ono S Okada M Masuno Y Nakamura H Kurahashi |
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| Affiliation: | Department of Anaesthesia and Intensive Care, Chinese University of Hong Kong, Prince of Wales Hospital. |
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| Abstract: | Maffucci's syndrome is a rare, congenital disease due to neuro-ectodermal dysplasia and is characterized by enchondromatosis and multiple soft tissue haemangiomata. A case of Maffucci's syndrome with haemangiomata along the upper airways requiring laser surgery is described. The literature on Maffucci's syndrome is reviewed. |
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