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Article

Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation.

American journal of medical genetics. Part A - 1 Jun 2006

Wester Ulrika, Bondeson Marie-Louise, Edeby Christina, Annerén Göran

Abstract excerpt

The deletion 18p syndrome is one of the most common chromosome abnormalities. The medical problems are mental and postnatal growth retardation, and sometimes malformations of the heart and brain. The individuals have some typical features, which might be easy to overlook and which are: ptosis, strabismus, hypertelorism, broad flat nose, micrognathia, big and low set ears. The aims of present study were to...

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Identifiers

PMID: 16691587
DOI: 10.1002/ajmg.a.31260

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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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