First-trimester diagnosis of meckel-gruber syndrome by fetal ultrasound with molecular identification of CC2D2A mutations by next-generation sequencing

Ultrasound in Obstetrics and Gynecology

Volumn 44, Issue 6, 2014, Pages 719-721

  Jones, D ^a   Fiozzo, F ^a   Waters, B ^a   McKnight, D ^b   Brown, S ^a  

^a UNIVERSITY OF VERMONT   (United States)

^b GENEDX   (United States)

Author keywords

Fetal malformation; Gene mutation; Meckel gruber syndrome; Next generation sequencing

Indexed keywords

CC2D2A PROTEIN, HUMAN; GENETIC MARKER; PROTEIN;

ADULT; CASE REPORT; CILIARY DYSKINESIA; DNA SEQUENCE; ECHOGRAPHY; ENCEPHALOCELE; FEMALE; FETUS ECHOGRAPHY; FIRST TRIMESTER PREGNANCY; GENETIC MARKER; GENETICS; HUMAN; KIDNEY POLYCYSTIC DISEASE; MUTATION; PREGNANCY;

ADULT; CILIARY MOTILITY DISORDERS; ENCEPHALOCELE; FEMALE; GENETIC MARKERS; HUMANS; MUTATION; POLYCYSTIC KIDNEY DISEASES; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PROTEINS; SEQUENCE ANALYSIS, DNA; ULTRASONOGRAPHY, PRENATAL;

EID: 84914168735     PISSN: 09607692     EISSN: 14690705     Source Type: Journal    
DOI: 10.1002/uog.13381     Document Type: Article

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