Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.

Thirty-seven patients presenting features of the Prader-Willi syndrome (PWS) have been examined using cytogenetic and molecular techniques. Clinical evaluation showed that 29 of these patients fulfilled diagnostic criteria for PWS. A deletion of the 15q11.2-q12 region could be identified molecularly...

Полное описание

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Библиографические подробности
Главные авторы: Robinson, W P, Bottani, A, Xie, Y G, Balakrishman, J, Binkert, F, Mächler, M, Prader, A, Schinzel, A
Формат: Artigo
Язык:Inglês
Опубликовано: 1991
Предметы:
Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1686452/
https://ncbi.nlm.nih.gov/pubmed/1684085
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