XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches

Overview of attention for article published in European Journal of Human Genetics, March 2025

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The clinical spectrum of XRCC4-related microcephalic primordial dwarfism (MPD) is expanded with the description of new features in seven patients. https://t.co/edWyutkmoU

XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches #RareDisease #Genetics https://t.co/ZXGyYOKZGi https://t.co/IRpJtV1zhK

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