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Article

DPF2-related Coffin-Siris syndrome type 7 in two generations.

European journal of medical genetics - 1 Jun 2024

Kolokotronis Konstantinos, Suter Aude-Annick, Ivanovski Ivan, Frey Tanja, Bahr Angela, Rauch Anita, Steindl Katharina

Abstract excerpt

To date 11 patients with Coffin-Siris syndrome type 7 (OMIM 618027) have been described since the first literature report. All reported patients carried de novo variants with presumed dominant negative effect, which localized in the PHD1/PHD2 domains of DPF2. Here we report on the first familial case of Coffin-Siris syndrome type 7. The index patient presented during the 1st year of life with failure to thrive...

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Identifiers

PMID: 38697389
DOI: 10.1016/j.ejmg.2024.104945

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