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XRCC4-related Microcephalic Primordial Dwarfism: Description of a Clinical Series of 7 Cases, Phenotype Expansion and New Diagnostic Approaches

Silvestre Cuinat,Nicolas Chatron,Florence Petit,Perrine Brunelle, Etienne Dincuff, Marion Aubert Mucca,Eric Bieth,Ariane Schmetz, Harald Rieder,Bernd Wollnik,Silke Kaulfuß,Gökhan Yigit, Colina McKeown, Tim Savage, Meghan R Mulligan,Louise S Bicknell,Nicole Corsten-Janssen,Patrick Edery,Gaetan Lesca,Jean-Pierre de Villartay,Audrey Putoux

European journal of human genetics EJHG（2025）

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