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Munce, T.; Heussler, H. S.; Bowling, F. G. – Journal of Intellectual Disability Research, 2010
Background: Current genotype-phenotype correlations in Prader-Willi syndrome (PWS) are struggling to give an explanation of the diversity in phenotype and there is a need to move towards a molecular understanding of PWS. A range of functions related to glycoproteins are involved in the pathophysiology of PWS and it may be that abnormal…
Descriptors: Mental Retardation, Genetic Disorders, Children, Physiology