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Article

Genotype-phenotype characteristics of 57 patients with Prader-Willi syndrome: a single-center experience from Turkey.

Clinical dysmorphology - 1 Oct 2024

Torun Deniz, Akin Onur

Abstract excerpt

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...

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Source

Identifiers

PMID: 38934057
DOI: 10.1097/MCD.0000000000000506

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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