Delayed diagnosis in patients with Prade
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Gunay-Aygun, M.; Heeger, S.; Schwartz, S.; Cassidy, S. B.
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Article
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1997
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John Wiley and Sons
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English
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Prader-Willi syndrome (PWS) results from absence of the normally active paternally inherited genes on proximal 15q, due to del(15)(q11q13) or by maternal uniparental disomy (UPD) 15 in most cases. In addition to a higher frequency of hypopigmentation among deletion patients, minor phenotypic differe