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American Journal of Medical Genetics, Part A

Volumn 161, Issue 9, 2013, Pages 2316-2320

Snyder-Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype

(9) Peron, Angela a Spaccini, Luigina a Norris, Joy b Bova, Stefania M a Selicorni, Angelo c Weber, Giovanna d Wood, Tim b Schwartz, Charles E b Mastrangelo, Massimo a

a V BUZZI CHILDREN S HOSPITAL (Italy)

b GREENWOOD GENETIC CENTER (United States)

c Fondazione MBBM (Italy)

d VITA SALUTE SAN RAFFAELE UNIVERSITY (Italy)

Author keywords

SMS gene; Snyder Robinson syndrome; Spermine synthase; X linked mental retardation

Indexed keywords

BISPHOSPHONIC ACID DERIVATIVE; CALCIUM; CLOBAZAM; CORTICOSTEROID; CORTICOTROPIN; ETHOSUXIMIDE; ETIRACETAM; PHENOBARBITAL; PHENYTOIN; PYRIDOXINE; SPERMINE SYNTHASE; VIGABATRIN;

ARTICLE; BONE DENSITOMETRY; BRAIN MALFORMATION; CASE REPORT; CEREBELLUM VERMIS; CHILD; CHILD DEVELOPMENT; CLINICAL FEATURE; DRUG WITHDRAWAL; ECHOGRAPHY; ECTOPIC KIDNEY; ELECTROENCEPHALOGRAPHY; FOCAL EPILEPSY; HORSESHOE KIDNEY; HUMAN; HYPERTRANSAMINASEMIA; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; KYPHOSCOLIOSIS; MALE; MUTATIONAL ANALYSIS; MYOCLONUS; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OSTEOPOROSIS; PEDIGREE ANALYSIS; PHENOTYPE; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN ANALYSIS; SCHOOL CHILD; SNYDER ROBINSON SYNDROME; SPERMINE SYNTHASE GENE; WEST SYNDROME;

SMS GENE; SNYDER-ROBINSON SYNDROME; SPERMINE SYNTHASE; X-LINKED MENTAL RETARDATION;

CODON, NONSENSE; HUMANS; INFANT; MALE; MENTAL RETARDATION, X-LINKED; PEDIGREE; PHENOTYPE; SPERMINE SYNTHASE;

EID: 84881660537 PISSN: 15524825 EISSN: 15524833 Source Type: Journal
DOI: 10.1002/ajmg.a.36116 Document Type: Article

Times cited : (24)

References (9)

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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.