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Article

The ring 14 syndrome.

European journal of medical genetics - 1 May 2012

Zollino Marcella, Ponzi Emanuela, Gobbi Giuseppe, Neri Giovanni

Abstract excerpt

The ring 14 syndrome is a rare condition, whose precise clinical and genetic characterization is still limited. This review summarizes literature data and it describes our own experience with 27 patients with ring 14 syndrome. Clinically, the ring 14 syndrome is characterized by a recognizable phenotype of shortness of stature, distinctive facial appearance, microcephaly, scoliosis, and ocular abnormalities,...

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Topics

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Share to Abnormalities, Multiple
Share to Chromosomes, Human, Pair 14
Share to Comparative Genomic Hybridization

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22564756
DOI: 10.1016/j.ejmg.2012.03.009

Provenance

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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