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
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