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An anadysplasia‐like,spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: Further definition of the phenotypic heterogeneity of LBR‐bone dysplasias |
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| Authors: | Nara Sobreira Peggy Modaff Gary Steel Jing You Sonia Nanda Julie Hoover‐Fong David Valle Richard M. Pauli |
| Affiliation: | 1. Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland;2. Midwest Regional Bone Dysplasia Clinic, Department of Pediatrics, University of Wisconsin‐Madison, Madison, Wisconsin;3. Women's College Hospital, Toronto, Canada |
| Abstract: | |
| Keywords: | metaphyseal dysplasia spondylometaphyseal dysplasia bone dysplasia lamin B receptor Pelger– Huet anomaly whole exome sequencing phenotype‐genotype correlation spontaneously remitting bone dysplasias |