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Deep Learning Technology: Sebastian Arnold, Betty van Aken, Paul Grundmann, Felix A. Gers and Alexander Löser. Learning Contextualized Document Representations for Healthcare Answer Retrieval. The Web Conference 2020 (WWW'20)

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Highlight for Query ‹Mitochondrial DNA deletion syndrome with limb-girdle weakness risk

Watson syndrome

Abstract

Watson syndrome is an autosomal dominant condition characterized by Lisch nodules of the ocular iris, axillary/inguinal freckling, pulmonary valvular stenosis, relative macrocephaly, short stature, and neurofibromas.

Watson syndrome is allelic to NF1, the same gene associated with neurofibromatosis type 1.