title: The Rubinstein-Taybi syndrome. A clinical and muscle electron microscopic study.
mesh_terms: D000015:Abnormalities, Multiple / Q000150:complications*; D000365:Age Determination by Skeleton; D001842:Bone and Bones / Q000002:abnormalities; D003241:Consanguinity; D002658:Developmental Disabilities / Q000150:complications; D005260:Female; D005528:Foot / Q000000981:diagnostic imaging; D006003:Glycogen / Q000378:metabolism; D006130:Growth Disorders / Q000150:complications; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D008854:Microscopy, Electron; D009132:Muscles / Q000294:innervation / Q000473:pathology; D009133:Muscular Atrophy / Q000473:pathology; D009210:Myofibrils; D009410:Nerve Degeneration; D010375:Pedigree; D012415:Rubinstein-Taybi Syndrome / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D012519:Sarcoplasmic Reticulum
chemical_list: D006003:Glycogen