Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings

@inproceedings{Angulo2015PraderWilliSA,
  title={Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings},
  author={Moris A Angulo and Merlin G Butler and M. E. Cataletto},
  booktitle={Journal of endocrinological investigation},
  year={2015}
}
INTRODUCTION Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder caused by lack of expression of genes on the paternally inherited chromosome 15q11.2-q13 region. There are three main genetic subtypes in PWS: paternal 15q11-q13 deletion (65-75 % of cases), maternal uniparental disomy 15 (20-30 % of cases), and imprinting defect (1-3 %). DNA methylation analysis is the only technique that will diagnose PWS in all three molecular genetic classes and differentiate PWS from… CONTINUE READING
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