Serendipitous diagnosis of mild recessive multiple epiphyseal dysplasia through parental-targeted screening test

Am J Med Genet A. 2011 Dec;155A(12):3136-8. doi: 10.1002/ajmg.a.34306. Epub 2011 Nov 3.

Authors

Yves Lacassie¹, John M Storment, Gabriel A Lazarin

Affiliation

¹ Department of Pediatrics, Division of Genetics, LSU Health Sciences Center and Children's Hospital, New Orleans, Louisiana 70118, USA. ylacas@lsuhsc.edu

PMID: 22052783
DOI: 10.1002/ajmg.a.34306

No abstract available

Publication types

Case Reports

MeSH terms

Adult
Anion Transport Proteins / genetics
Child, Preschool
Facies
Female
Genotype
Humans
Infant
Male
Mutation
Osteochondrodysplasias / diagnosis*
Osteochondrodysplasias / genetics
Phenotype
Sulfate Transporters

Substances

Anion Transport Proteins
SLC26A2 protein, human
Sulfate Transporters