Diagnosis in Prader-Willi syndrome.

Thirty one patients with the putative diagnosis of Prader-Willi syndrome were reassessed clinically and by DNA analysis. Eleven patients were judged not to have Prader-Willi syndrome and 20 to have the condition. This was confirmed by DNA analysis in all but one case. The diagnosis of Prader-Willi s...

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Autors principals: Chu, C E, Cooke, A, Stephenson, J B, Tolmie, J L, Clarke, B, Parry-Jones, W L, Connor, J M, Donaldson, M D
Format: Artigo
Idioma:Inglês
Publicat: 1994
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1030061/
https://ncbi.nlm.nih.gov/pubmed/7826116
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