Mesomelic dysplasias are a group of rare skeletal disorders with 11 entities included in the Skeletal dysplasia nosology [1]. Among them, mesomelic dysplasia Savarirayan-type, ID4-related (MDST, MIM ...
Inversions are genetic sequence alignments on chromosomes that result from the breakage and reunion of segments in opposite sites [1], including paracentric and pericentric inversions. Pericentric ...
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