Thanatophoric dysplasia type i associated with increased nuchal translucency in the first trimester: Early prenatal diagnosis using combined ultrasonography and molecular biology

Fetal and Pediatric Pathology

Volumn 29, Issue 5, 2010, Pages 314-322

  Tonni, Gabriele ^a   Azzoni, Daniela ^a   Ventura, Alessandro ^a   Ferrari, Bruno ^b   Felice, Claudio De ^c   Baldi, Maurizia ^d  

^a Guastalla Civil Hospital   (Italy)

^b UNIVERSITY OF PARMA   (Italy)

^c UNIVERSITY OF SIENA   (Italy)

^d GALLIERA HOSPITAL   (Italy)

Author keywords

Molecular biology; Nuchal translucency; Prenatal ultrasound diagnosis; Skeletal dysplasia; Thanatophoric dysplasia type I

Indexed keywords

ADULT; AMNIOCENTESIS; ARTICLE; BONE DYSPLASIA; EARLY DIAGNOSIS; ECHOGRAPHY; FEMALE; FETUS; FETUS ECHOGRAPHY; FIRST TRIMESTER PREGNANCY; FOLLOW UP; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN EXPERIMENT; KARYOTYPE 46,XX; MICROMELIA; MOLECULAR BIOLOGY; NUCHAL TRANSLUCENCY MEASUREMENT; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; THANATOPHORIC DWARFISM;

ABORTION, INDUCED; ADULT; DNA MUTATIONAL ANALYSIS; EARLY DIAGNOSIS; FEMALE; HUMANS; NUCHAL TRANSLUCENCY MEASUREMENT; POINT MUTATION; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PRENATAL DIAGNOSIS; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; THANATOPHORIC DYSPLASIA;

EID: 77955640933     PISSN: 15513815     EISSN: 15513823     Source Type: Journal    
DOI: 10.3109/15513811003796938     Document Type: Article

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