Case report: Adult phenotype of Mulvihill-Smith syndrome

American Journal of Medical Genetics, Part A

Volumn 149, Issue 3, 2009, Pages 496-500

  Yagihashi, Tatsuhiko ^a   Kato, Motoichiro ^a   Izumi, Kosuke ^a,b   Kosaki, Rika ^a,c   Yago, Kaori ^a   Tsubota, Kazuo ^a   Sato, Yuji ^a   Okubo, Minoru ^d,e   Watanabe, Goro ^f   Takahashi, Takao ^a   Kosaki, Kenjiro ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b CASE WESTERN RESERVE UNIVERSITY   (United States)

^c NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^d Tokyo Medical and Dental University   (Japan)

^e Okinaka Memorial Institute for Medical Research   (Japan)

^f TORANOMON HOSPITAL   (Japan)

Author keywords

Agrypnia excitata; Dementia; Mulvihill Smith syndrome; Sleep disorder; Solid pseudopapillary cystic tumor

Indexed keywords

CYSTEINE ETHYL ESTER TC 99M; ORAL ANTIDIABETIC AGENT;

ADULT; ALOPECIA; ANAMNESIS; AROUSAL; ARTICLE; ATAXIA; BRACHYDACTYLY; BRAIN ATROPHY; BRAIN BLOOD FLOW; BRAIN DYSFUNCTION; BRAIN FUNCTION; BRAIN REGION; CASE REPORT; CATARACT; CEREBELLUM TUMOR; CHICKENPOX; CLINICAL EXAMINATION; CLINICAL FEATURE; COGNITIVE DEFECT; CORNEA TRANSPLANTATION; DAYTIME SOMNOLENCE; DEMENTIA; DEVELOPMENTAL DISORDER; DIABETES MELLITUS; DISEASE COURSE; ECHOGRAPHY; ELECTROENCEPHALOGRAPHY; ELECTROMYOGRAM; ELECTROOCULOGRAPHY; FEMALE; GENETIC DISORDER; HEARING LOSS; HUMAN; HYPERESTHESIA; HYPNAGOGIC HALLUCINATION; INSOMNIA; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; KERATOPATHY; LENS IMPLANT; LEOPARD SYNDROME; LIMBIC SYSTEM; MEMORY DISORDER; MICROCEPHALY; MOTOR DYSFUNCTION; MULVIHILL SMITH SYNDROME; MUSCLE TONE; MYOCLONUS; NEUROIMAGING; NEUROPHYSIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; OCULOGRAPHY; OTITIS MEDIA; PALATE DISEASE; PANCREAS TUMOR; PAPILLOMA; PARESIS; PERCEPTION DEAFNESS; PHENOTYPE; PIGMENTED NEVUS; POLYSOMNOGRAPHY; PRIORITY JOURNAL; PROGERIA; SHORT STATURE; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; SLEEP DISORDER; SLEEP SPINDLE; SLOW WAVE SLEEP; SOCIAL INTERACTION; THALAMUS; THALAMUS DORSOMEDIAL NUCLEUS; TONGUE TUMOR; VISUAL HALLUCINATION; VOICE; WERNER SYNDROME;

ADULT; AGING, PREMATURE; BRAIN; DEMENTIA; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MEMORY DISORDERS; MICROCEPHALY; PHENOTYPE; SLEEP DISORDERS; SLEEP INITIATION AND MAINTENANCE DISORDERS; TOMOGRAPHY, EMISSION-COMPUTED, SINGLE-PHOTON;

EID: 61749086291     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32551     Document Type: Article

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