Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene

Fetal and Pediatric Pathology

Volumn 32, Issue 5, 2013, Pages 319-325

  Moul, Adrienne ^a   Alladin, Amanda ^b   Navarrete, Cristina ^b   Abdenour, George ^c   Rodriguez, Maria M ^a  

^a Holtz Children's Hospital   (United States)

^b Division of Neonatology ^*  (United States)

^c Division of Pediatric Orthopaedics   (United States)

Author keywords

Autosomal recessive; LEPRE 1 gene; Osteogenesis imperfecta; Perinatal form; Skeletal dysplasia

Indexed keywords

ADRENALIN; C REACTIVE PROTEIN; COLLAGEN TYPE 1; COLLAGEN TYPE 2; FENTANYL; MORPHINE; OXYGEN; PROLINE DERIVATIVE; PROLYL 3 HYDROXYLASE 1; UNCLASSIFIED DRUG;

AFRICAN AMERICAN; AFRICAN HISPANIC; ANTERIOR FONTANEL; ARTICLE; ARTIFICIAL VENTILATION; AUTOPSY; BRADYCARDIA; BREECH PRESENTATION; BRONCHOPNEUMONIA; BRONCHUS MUCUS; CAMPOMELIC DYSPLASIA; CASE REPORT; CESAREAN SECTION; COL1A1 GENE; COL1A2 GENE; CONTINUOUS INFUSION; DNA SEQUENCE; DRUG DOSE INCREASE; FEMALE; FEMUR FRACTURE; FIBROBLAST CULTURE; FOLLICLE CYST; FRACTURE HEALING; GENE; GENE MUTATION; HETEROZYGOSITY; HISPANIC; HUMAN; HUMAN TISSUE; HYDRAMNIOS; HYPERCAPNIA; INFANT; LEPRE1 GENE; LUMBAR PUNCTURE; MENINGITIS; NEUTROPENIA; NEUTROPHIL; OSTEOGENESIS IMPERFECTA; OSTEOPENIA; OXYGEN SATURATION; PERIORBITAL EDEMA; POSITIVE END EXPIRATORY PRESSURE; POSTERIOR FONTANEL; POSTERIOR FOSSA; PRENATAL GROWTH; PRIORITY JOURNAL; RESPIRATORY DISTRESS; RESPIRATORY FAILURE; SKIN BIOPSY; SKIN FIBROBLAST; THORAX RADIOGRAPHY; TREATMENT RESPONSE; VARUS DEFORMITY;

FATAL OUTCOME; FEMALE; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MEMBRANE GLYCOPROTEINS; OSTEOGENESIS IMPERFECTA; PROTEOGLYCANS; RESPIRATORY DISTRESS SYNDROME, NEWBORN;

EID: 84882990190     PISSN: 15513815     EISSN: 15513823     Source Type: Journal    
DOI: 10.3109/15513815.2012.754528     Document Type: Article

References (8)

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