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http://dx.doi.org/10.1007/s00259-014-2920-6DOI Listing

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

Clin Genet

November 2024

CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.

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 many others.

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