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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RP @ejhg-journal.bsky.social: The clinical spectrum of XRCC4-related microcephalic primordial dwarfism (MPD) is expanded with the description of new features in seven patients. 🧬 www.nature.com/articles/s41...

The clinical spectrum of XRCC4-related microcephalic primordial dwarfism (MPD) is expanded with the description of new features in seven patients. 🧬 www.nature.com/articles/s41...

Latest publication with a contribution from Otago Biochemistry XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches www.nature.com/articles/s41...

XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches #RareDisease #Genetics www.nature.com/articles/s41...

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