Mosaic compound heterozygosity of SHOX resulting in Leri–Weill dyschondrosteosis with marked short stature: Implications for disease mechanisms and recurrence risks
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A. Munnich | V. Cormier-Daire | E. Levy-Lahad | C. Huber | G. Altarescu | O. Reish | P. Renbaum | M. Mashevich | D. Chapman-Shimshoni