- Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutationsMichael B Bober
Division of Medical Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware 19083, USA
Am J Med Genet A 158:2719-25. 2012..The growth charts presented here will be of assistance with diagnosis and management of MOPD II, and should have particular utility in nutritional management of MOPD II during infancy...
- Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomyMichael B Bober
Division of Medical Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware 19803, USA
Am J Med Genet A 158:2336-41. 2012..Further observation of respiratory status, combined with the macroscopic and microscopic analysis of pulmonary branching anatomy and alveolar structure in this patient population will be important to explore this hypothesis...
- Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotypeMichael B Bober
Division of Genetics, Department of Pediatrics, AI duPont Hospital for Children, Wilmington, Delaware 19803, USA
Am J Med Genet A 152:960-5. 2010..Emergent evaluation is also needed when other neurologic or cardiac symptoms are present...