Genotype–phenotype characteristics of 57 patients with Prader–Willi syndrome: a single-center experience from Turkey
Deniz Torun,
Onur Akin
Abstract:Objectives
Prader–Willi syndrome (PWS) is a rare and complex genetic disorder caused by the loss of expression of the paternal copy of the imprinted genes on chromosome 15q11-q13. A variety of findings have been reported on the phenotypic differences between the genetic subtypes of PWS. This article compares the clinical findings of 57 PWS patients by genetic subtype and explores possible associations in this context.
Methods
Methylation‑specific multip… Show more
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