Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene.

Moul, Adrienne

Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene. [electronic resource] - Fetal and pediatric pathology Oct 2013 - 319-25 p. digital

Publication Type: Case Reports; Journal Article

1551-3823

10.3109/15513815.2012.754528 doi


Fatal Outcome
Female
Genes, Recessive
Heterozygote
Humans
Infant
Infant, Newborn
Membrane Glycoproteins--genetics
Osteogenesis Imperfecta--complications
Prolyl Hydroxylases
Proteoglycans--genetics
Respiratory Distress Syndrome, Newborn--etiology