Rubin : KMLE 의학 검색 엔진 - 의학사전, 의학용어, 의학약어, 의학논문, 약품/의약품 검색

MeSH(Medical Subject Headings) 맞춤 검색 (http://www.nlm.nih.gov) 결과 : 1 페이지: 1

Rubinstein-Taybi Syndrome - 새창 A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).
Synonyms : Rubinstein Syndrome, Broad Thumb Hallux Syndrome, Broad Thumb-Hallux Syndromes, Rubinstein Taybi Syndrome, Syndrome, Broad Thumb-Hallux, Syndrome, Rubinstein, Syndrome, Rubinstein-Taybi, Syndromes, Broad Thumb-Hallux