New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome
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N. Winer | C. Bénéteau | S. Mercier | S. Barbarot | S. Hadj-Rabia | B. Isidor | S. Bézieau | T. Besnard | X. Latypova | C. Kannengiesser | M. Vincent | M. Nizon | M. Joubert | F. Dufernez | M. Pacault | Khaldia Belabbas | S. Leclerc-Mercier | A. Lamazière
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