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Article

Identification of copy-number variants in patients with overgrowth disorders.

Clinical genetics - 1 Nov 2024

Parra Alejandro, Tenorio-Castano Jair, Nevado Julián, Cazalla Mario, Miranda-Alcaraz Lucía, Gallego-Zazo Natalia, Silván Cristina, Arias Pedro, Pozo-Román Jesús, Ballesta-Martínez María Juliana, Guillén-Navarro Encarna, Arroyo Ignacio, Lotersztein Vanesa, Cosentino Viviana, González-Meneses Antonio, Galán Enrique, Rosell Jordi, Ramos Feliciano, Lapunzina Pablo

Abstract excerpt

Overgrowth syndromes (OGS) comprise a heterogeneous group of disorders whose main characteristic is that the weight, height or the head circumference are above the 97th centile or 2-3 standard deviations above the mean for age, gender, and ethnic group. Several copy-number variants (CNVs) have been associated with the development of OGS, such as the 5q35 microdeletion or the duplication of the 15q26.1-qter, among...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39091142
DOI: 10.1111/cge.14596

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