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DeCS
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Descriptor Inglés:
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Silver-Russell Syndrome
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Descriptor Español:
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Síndrome de Silver-Russell
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Descriptor Portugués:
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Síndrome de Silver-Russell
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Sinónimos Inglés:
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Dwarfism, Silver Russell
Dwarfism, Silver-Russell
Russell Silver Syndrome
Russell-Silver Syndrome
Silver Russell Dwarfism
Silver Russell Syndrome
Silver-Russell Dwarfism
Syndrome, Russell Silver
Syndrome, Silver-Russell
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Categoría:
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C05.660.207.925
C16.131.077.855
C16.131.260.870
C16.320.180.870
C16.320.240.937
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Definición Inglés:
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Genetically and clinically heterogeneous disorder characterized by low birth weight, postnatal growth retardation, facial dysmorphism, bilateral body asymmetry, and clinodactyly of the fifth fingers. Alterations in GENETIC IMPRINTING are involved. Hypomethylation of IGF2/H19 locus near an imprinting center region of chromosome 11p15 plays a role in a subset of Silver-Russell syndrome. Hypermethylation of the same chromosomal region, on the other hand, can cause BECKWITH-WIEDEMANN SYNDROME. Maternal UNIPARENTAL DISOMY for chromosome 7 is known to play a role in its etiology. |
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Relacionados Inglés:
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Beckwith-Wiedemann Syndrome
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Nota Histórica Inglés:
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2010
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Calificadores Permitidos Inglés:
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Número del Registro:
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53498
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Identificador Único:
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D056730
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Ocurrencia en la BVS:
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Similar:
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DeCS
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