title: Serendipitous diagnosis of mild recessive multiple epiphyseal dysplasia through parental-targeted screening test.
authors: Department of Pediatrics, Division of Genetics, LSU Health Sciences Center and Children's Hospital, New Orleans, Louisiana 70118, USA. ylacas@lsuhsc.edu
authors: Yves
authors: Y
authors: Lacassie
authors: John M
authors: JM
authors: Storment
authors: Gabriel A
authors: GA
authors: Lazarin
mesh_terms: D000328:Adult; D027321:Anion Transport Proteins / Q000235:genetics; D002675:Child, Preschool; D019066:Facies; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype; D000076988:Sulfate Transporters
chemical_list: D027321:Anion Transport Proteins; C089651:SLC26A2 protein, human; D000076988:Sulfate Transporters