Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.

Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome with variable expression. The major features are anterior abdominal wall defects, macroglossia, and gigantism and less commonly neonatal hypoglycaemia, organomegaly, congenital renal anomalies, hemihypertrophy and embryonal tumour...

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Autores principales: Slatter, R E, Elliott, M, Welham, K, Carrera, M, Schofield, P N, Barton, D E, Maher, E R
Formato: Artigo
Lenguaje:Inglês
Publicado: 1994
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050119/
https://ncbi.nlm.nih.gov/pubmed/7837249
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