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Findings from Next-Generation Sequencing-Based Multi-Gene Panel Testing for Individuals with Overgrowth/Macrocephaly

ESHG

Gothenburg, Sweden, June 13- 2026

Poster presentation: Findings from Next-Generation Sequencing-Based Multi-Gene Panel Testing for Individuals with Overgrowth/Macrocephaly

Authors: von Nandelstadh P, Andreevskaya M, Mikk M-L, Perez-Carro R, Gandia M, Pelttari L, Valeiras B, Iivonen A-P, Segura Castell M, Esperon U-S, Gordo G, Woldegebriel r, Taylor J, Baquero Vaquer A, Alakurtti K, Wells K, Väisänen A, Kaasinen E, Djupsjöbacka J, Muona M, Kytölä V, Valori M, Salmenperä P, Tuupanen S, Koskinen L, Koskenvuo J

Medical Specialty: Genetics, Neurology

Disclaimer: One or more of the authors of this publication were employed at the time by BluePrint Genetics, a subsidiary of Quest Diagnostics.

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