Lethal osteogenesis imperfecta-like condition with cutis laxa and arterial tortuosity in MZ twins due to a homozygous Fibulin-4 mutation

Pediatric and Developmental Pathology

Volumn 15, Issue 2, 2012, Pages 137-141

  Erickson, Lance K ^a   Opitz, John M ^a   Zhou, Holly ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

Arterial tortuosity; Cutis laxa; EFEMP2; Fibulin 4; Multiple fractures

Indexed keywords

FIBULIN 4; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; ASYSTOLE; CALLUS; CASE REPORT; CESAREAN SECTION; CODON; CONGENITAL BLOOD VESSEL MALFORMATION; CUTIS LAXA; DESCENDING AORTA; ERYTHROCYTE TRANSFUSION; FEMALE; FETUS ECHOGRAPHY; FIBROBLAST; GESTATIONAL AGE; HEART VENTRICLE FIBRILLATION; HOMOZYGOSITY; HUMAN; ILIAC ARTERY; INFANT; LIMB FRACTURE; MALE; MONOZYGOTIC TWINS; MOTHER; MUTATIONAL ANALYSIS; OLIGOHYDRAMNIOS; OSTEOGENESIS IMPERFECTA; PHENOTYPE; PNEUMOTHORAX; PRENATAL CARE; PRIORITY JOURNAL; RESUSCITATION; RIB FRACTURE; SKULL FRACTURE;

ABNORMALITIES, MULTIPLE; ADULT; ARTERIES; CUTIS LAXA; EXTRACELLULAR MATRIX PROTEINS; FEMALE; HOMOZYGOTE; HUMANS; MALE; MUTATION; OSTEOGENESIS IMPERFECTA; PREGNANCY; TWINS, MONOZYGOTIC;

EID: 84864144985     PISSN: 10935266     EISSN: 16155742     Source Type: Journal    
DOI: 10.2350/11-03-1010-CR.1     Document Type: Article

References (10)

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