First-trimester molecular prenatal diagnosis of a thanatophoric dysplasia

Prenatal Diagnosis

Volumn 30, Issue 12-13, 2010, Pages 1222-1223

  Delahaye, Sophie ^a   Rosenblatt, Jonathan ^a   Costa, Jean Marc ^b   Bazin, Anne ^b   Bénifla, Jean Louis ^a   Jouannic, Jean Marie ^a  

^a ARMAND TROUSSEAU HOSPITAL   (France)

^b LABORATOIRE CERBA   (France)

Author keywords

DNA; Fetal and placental pathology; Fetal cells; Fetal imaging; Fetal ultrasound; First trimester; Nucleic acids and proteins; Single gene disorders; Thanatophoric dysplasia

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 3;

ADULT; CASE REPORT; CHORION VILLUS; CHROMOSOME ANALYSIS; CLINICAL FEATURE; DIAGNOSTIC ACCURACY; FEMALE; FETUS; FIRST TRIMESTER PREGNANCY; GENE MUTATION; HUMAN; LETTER; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; THANATOPHORIC DWARFISM;

CHORIONIC VILLI SAMPLING; FEMALE; HUMANS; MIDDLE AGED; MOLECULAR DIAGNOSTIC TECHNIQUES; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PRENATAL DIAGNOSIS; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; THANATOPHORIC DYSPLASIA;

EID: 78649642217     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2638     Document Type: Letter

References (12)

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