Prenatal diagnosis of thanatophoric dysplasia by 3-D helical computed tomography and genetic analysis

Fetal Diagnosis and Therapy

Volumn 24, Issue 4, 2009, Pages 420-424

  Tsutsumi, Seiji ^a   Sawai, Hideaki ^b   Nishimura, Gen ^c   Hayasaka, Kiyoshi ^a   Kurachi, Hirohisa ^a  

^a YAMAGATA UNIVERSITY   (Japan)

^b KYOTO UNIVERSITY   (Japan)

^c TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

Gene mutation; Prenatal diagnosis; Thanatophoric dysplasia

Indexed keywords

CYSTEINE; FIBROBLAST GROWTH FACTOR RECEPTOR 3; TYROSINE;

ADULT; AMNION FLUID; AMNIOTIC FLUID CELL; ARTICLE; BONE DYSPLASIA; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; ECHOGRAPHY; FEMALE; FETUS; GENETIC ANALYSIS; HUMAN; MALE; MISSENSE MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SKULL MALFORMATION; THANATOPHORIC DWARFISM; THORACIC CAVITY;

ADULT; ARM; FEMALE; HUMANS; INFANT, NEWBORN; LEG; MUTATION, MISSENSE; PREGNANCY; PREMATURE BIRTH; PRENATAL DIAGNOSIS; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; SKULL; THANATOPHORIC DYSPLASIA; TOMOGRAPHY, SPIRAL COMPUTED;

EID: 55149106566     PISSN: 10153837     EISSN: None     Source Type: Journal    
DOI: 10.1159/000170092     Document Type: Article

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