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Article

A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state.

European journal of medical genetics - 1 Nov 2012

Freitas Érika L, Gribble Susan M, Simioni Milena, Vieira Társis P, Prigmore Elena, Krepischi Ana C, Rosenberg Carla, Pearson Peter L, Melo Débora G, Gil-da-Silva-Lopes Vera Lúcia

Abstract excerpt

Submicroscopic chromosomal anomalies play an important role in the etiology of craniofacial malformations, including midline facial defects with hypertelorism (MFDH). MFDH is a common feature combination in several conditions, of which Frontonasal Dysplasia is the most frequently encountered manifestation; in most cases the etiology remains unknown. We identified a parent to child transmission of a 6.2 Mb...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 22820457
DOI: 10.1016/j.ejmg.2012.06.015

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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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