1.
Clin Case Rep
; 5(4): 431-434, 2017 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28396763
RESUMO
We report on a newborn with IUGR, rhizomelic dwarfism, and suspected chondrodysplasia punctata. At birth, OI was suspected; however, a skeletal survey suggested ML II alpha/beta. Sequencing revealed compound heterozygosity for a reported pathogenic and novel but expected pathogenic GNPTAB variant. Molecular testing for autosomal recessive OI identified a SERPINF1 variant.