A second individual with rhizomelic spondyloepimetaphyseal dysplasia and homozygous variant in GNPNAT1.
Published in European journal of medical genetics
Spondyloepimetaphyseal dysplasias (SEMDs) belong to a clinically and genetically heterogeneous group of inherited skeletal disorders defined by a defect in the growth and shape of vertebrae, epiphyses and metaphyses. Rhizomelic SEMD is characterized by a disproportionate small stature caused by severe shortening and deformation of the limbs' proxim...