A case of boomerang dysplasia with a novel causative mutation in filamin B: Identification of typical imaging findings on ultrasonography and 3D-CT imaging

Fetal Diagnosis and Therapy

Volumn 32, Issue 3, 2012, Pages 216-220

  Tsutsumi, Seiji ^a   Maekawa, Ayako ^a   Obata, Miyuki ^a   Morgan, Timothy ^b   Robertson, Stephen P ^b   Kurachi, Hirohisa ^a  

^a YAMAGATA UNIVERSITY   (Japan)

^b UNIVERSITY OF OTAGO   (New Zealand)

Author keywords

Boomerang dysplasia; Fetal imaging; Filamin B

Indexed keywords

FILAMIN; FILAMIN B; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BONE MALFORMATION; BOOMERANG DYSPLASIA; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DYSPLASIA; FEMALE; FETUS; FETUS ECHOGRAPHY; FILAMIN B GENE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; HUMAN; PRIORITY JOURNAL; THREE DIMENSIONAL IMAGING;

ADULT; AMINO ACID SUBSTITUTION; CONTRACTILE PROTEINS; DWARFISM; FACIES; FATAL OUTCOME; FEMALE; HUMANS; IMAGING, THREE-DIMENSIONAL; INFANT, NEWBORN; MALE; MICROFILAMENT PROTEINS; MUTATION; OSTEOCHONDRODYSPLASIAS; PREGNANCY; PREGNANCY TRIMESTER, THIRD; PROTEIN ISOFORMS; RESPIRATORY INSUFFICIENCY; TERM BIRTH; TOMOGRAPHY, X-RAY COMPUTED; ULTRASONOGRAPHY, PRENATAL;

EID: 84870066324     PISSN: 10153837     EISSN: 14219964     Source Type: Journal    
DOI: 10.1159/000335687     Document Type: Article

References (10)

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