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Editorial: Towards a European consensus guideline for Phelan-McDermid syndrome

Conny M.A. van Ravenswaaij‐Arts, Ingrid D. C. van Balkom, Sarah Jesse, María Clara Bonaglia

2023European Journal of Medical Genetics11 citationsDOIOpen Access PDF

Topics & Concepts

HaploinsufficiencyIntellectual disabilityPhenotypeGeneticsMedicineBiologyGeneGenomic variations and chromosomal abnormalitiesCongenital heart defects researchPrenatal Screening and Diagnostics
Editorial: Towards a European consensus guideline for Phelan-McDermid syndrome | Litcius