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Article

On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.

American journal of medical genetics. Part C, Seminars in medical genetics - 15 Nov 2008

Zollino Marcella, Murdolo Marina, Marangi Giuseppe, Pecile Vanna, Galasso Cinzia, Mazzanti Laura, Neri Giovanni

Abstract excerpt

Based on genotype-phenotype correlation analysis of 80 Wolf-Hirschhorn syndrome (WHS) patients, as well as on review of relevant literature, we add further insights to the following aspects of WHS: (1) clinical delineation and phenotypic categories; (2) characterization of the basic genomic defect, mechanisms of origin and familiarity; (3) identification of prognostic factors for mental retardation; (4)...

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Identifiers

PMID: 18932124
DOI: 10.1002/ajmg.c.30190

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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