Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk

Prenatal Diagnosis

Volumn 20, Issue 1, 2000, Pages 70-75

  Lépinard, Catherine ^a,g   Descamps, Philippe ^a   Meneguzzi, Guerrino ^b   Blanchet Bardon, Claudine ^c   Germain, Dominique P ^d   Larget Piet, Luc ^a   Beringue, Frédérique ^a   Berchel, Colette ^a   Muller, Françoise ^e   Dumez, Yves ^f  

^a ANGERS UNIVERSITY HOSPITAL   (France)

^b INSERM   (France)

^c SAINT LOUIS HOSPITAL   (France)

^d Laboratoire de Genetique CHU Cochin ^*  (France)

^e HÔPITAL AMBROISE PARÉ   (France)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

^g Hopital Necker Enfants Malades ^*  (France)

Author keywords

Alpha 6 beta 4 integrin mutation; Amniotic acetylcholinesterase; Prenatal diagnosis; Pyloric atresia junctional epidermolysis bullosa syndrome; Ultrasonography

Indexed keywords

ACETYLCHOLINESTERASE; ALPHA FETOPROTEIN; INTEGRIN;

ADULT; AMNIOCENTESIS; AMNION FLUID; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BLISTER; CASE REPORT; EAR MALFORMATION; ECHOGRAPHY; EPIDERMOLYSIS BULLOSA; FACIAL BONE; FEMALE; FETUS; GENE MUTATION; HAND MALFORMATION; HUMAN; HUMAN TISSUE; HYDRAMNIOS; KARYOTYPE; KIDNEY MALFORMATION; NOSE MALFORMATION; NUCLEOTIDE SEQUENCE; PREGNANCY; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SKIN BIOPSY; SKIN DISEASE; STOMACH DISEASE; TOE MALFORMATION;

ABNORMALITIES, MULTIPLE; ACETYLCHOLINESTERASE; ADULT; AMNIOCENTESIS; AMNIOTIC FLUID; ANTIGENS, CD; BIOPSY; CONSANGUINITY; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; FEMALE; FETAL DISEASES; GESTATIONAL AGE; HUMANS; INTEGRIN ALPHA6; MUTATION; PREGNANCY; PYLORUS; SKIN; SYNDROME; ULTRASONOGRAPHY, PRENATAL;

POMACANTHUS MACULOSUS;

EID: 0342545854     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(200001)20:1<70::AID-PD747>3.0.CO;2-E     Document Type: Article

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