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Article

7p22.1 microduplication syndrome: Refinement of the critical region.

European journal of medical genetics - 1 Feb 2017

Ronzoni Luisa, Grassi Francesca Sofia, Pezzani Lidia, Tucci Arianna, Baccarin Marco, Esposito Susanna, Milani Donatella

Abstract excerpt

7p22.1 microduplication syndrome is mainly characterized by developmental and speech delay, craniofacial dysmorphisms and skeletal abnormalities. The minimal critical region includes two OMIM genes: ACTB and RNF216. Here, we report on a girl carrying the smallest 7p22.1 microduplication detected to date, contributing to the delineation of the clinical phenotype of the 7p22.1 duplication syndrome and to the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27866048
DOI: 10.1016/j.ejmg.2016.11.005

Genes

ACTB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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