MACRONUTRIENT (MN) PREFERENCES IN PRADER-WILLI SYNDROME (PWS), NORMAL WEIGHT& OBESE CONTROLS. † 852

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Prader-Willi Syndrome (PWS) — Diagnosis and Treatment

Prader-Willi syndrome (PWS) is an unusual, rare complex autosomal neurodevelopmental disease resulting from genomic imprinting and uniparental disomy of maternal chromosome 15 with a simultaneous functional loss of the parental part 15q11.2-q13. This article briefly elucidates the phenomenon of genomic imprinting, focuses on the diverse clinical features of PWS and concludes with the management...

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Prader-Willi Syndrome (PWS) — Diagnosis and Treatment

Prader-Willi syndrome (PWS) is an unusual, rare complex autosomal neurodevelopmental disease resulting from genomic imprinting and uniparental disomy of maternal chromosome 15 with a simultaneous functional loss of the parental part 15q11.2-q13. This article briefly elucidates the phenomenon of genomic imprinting, focuses on the diverse clinical features of PWS and concludes with the management...

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Prader-Willi Syndrome (PWS) — Diagnosis and Treatment

Prader-Willi syndrome (PWS) is an unusual, rare complex autosomal neurodevelopmental disease resulting from genomic imprinting and uniparental disomy of maternal chromosome 15 with a simultaneous functional loss of the parental part 15q11.2-q13. This article briefly elucidates the phenomenon of genomic imprinting, focuses on the diverse clinical features of PWS and concludes with the management...

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Prader-Willi Syndrome (PWS) — Diagnosis and Treatment

Prader-Willi syndrome (PWS) is an unusual, rare complex autosomal neurodevelopmental disease resulting from genomic imprinting and uniparental disomy of maternal chromosome 15 with a simultaneous functional loss of the parental part 15q11.2-q13. This article briefly elucidates the phenomenon of genomic imprinting, focuses on the diverse clinical features of PWS and concludes with the management...

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The Prader - Willi syndrome Maternal Ch 15 m EW Normal parents Normal PWS

Since the original description by Prader, Labhart, and Willi in 1956,' there have been over 700 case reports of the Prader-Willi syndrome and by the end of 1991 the PraderWilli Association were aware of 1595 affected individuals in North America.2 Estimates of prevalence vary: one group has reported a consensus figure of one in 10 000 births,3 but with modem techniques for laboratory diagnosis ...

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ژورنال

عنوان ژورنال: Pediatric Research

سال: 1996

ISSN: 0031-3998,1530-0447

DOI: 10.1203/00006450-199604001-00874