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BECKWITH-WIEDEMANN SYNDROME [1 record]
Record 1 - internal organization data 2019-02-13
Record 1, English
Record 1, Subject field(s)
- Human Diseases
- Genetics
Record 1, Main entry term, English
- Beckwith-Wiedemann syndrome
1, record 1, English, Beckwith%2DWiedemann%20syndrome
correct
Record 1, Abbreviations, English
- BWS 2, record 1, English, BWS
correct, see observation
Record 1, Synonyms, English
- exomphalos-macroglossia-gigantism syndrome 3, record 1, English, exomphalos%2Dmacroglossia%2Dgigantism%20syndrome
correct
- EMG syndrome 4, record 1, English, EMG%20syndrome
correct
Record 1, Textual support, English
Record number: 1, Textual support number: 1 DEF
[A] neonatal, cerebral gigantism characterized by macrosomia, visceromegaly, macroglossia and omphalocele, with associated minor congenital anomalies ... 5, record 1, English, - Beckwith%2DWiedemann%20syndrome
Record number: 1, Textual support number: 1 CONT
BWS is a multigenetic disorder caused by dysregulation of gene expression in the imprinted 11p15 chromosomal region. Various 11p15 defects have been implicated and epigenetic defects account for about two thirds of cases. 6, record 1, English, - Beckwith%2DWiedemann%20syndrome
Record 1, French
Record 1, Domaine(s)
- Maladies humaines
- Génétique
Record 1, Main entry term, French
- syndrome de Beckwith-Wiedemann
1, record 1, French, syndrome%20de%20Beckwith%2DWiedemann
correct, masculine noun
Record 1, Abbreviations, French
- SBW 2, record 1, French, SBW
correct, masculine noun
- BSW 3, record 1, French, BSW
correct, masculine noun
Record 1, Synonyms, French
- syndrome de Wiedemann-Beckwith 4, record 1, French, syndrome%20de%20Wiedemann%2DBeckwith
correct, masculine noun
- syndrome d'omphalocèle-macroglossie-gigantisme 3, record 1, French, syndrome%20d%27omphaloc%C3%A8le%2Dmacroglossie%2Dgigantisme
correct, masculine noun
- syndrome omphalocèle-macroglossie-gigantisme 5, record 1, French, syndrome%20omphaloc%C3%A8le%2Dmacroglossie%2Dgigantisme
correct, masculine noun
Record 1, Textual support, French
Record number: 1, Textual support number: 1 DEF
[...] syndrome génétique lié à une dérégulation de l'empreinte parentale [et caractérisé] par un gigantisme associé à une macroglossie et surtout à une prédisposition accrue aux tumeurs embryonnaires (rhabdomyosarcome et tumeur de Wilms). 6, record 1, French, - syndrome%20de%20Beckwith%2DWiedemann
Record number: 1, Textual support number: 1 OBS
BSW : de l'anglais Beckwith-Wiedemann syndrome. 7, record 1, French, - syndrome%20de%20Beckwith%2DWiedemann
Record 1, Spanish
Record 1, Textual support, Spanish
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