PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings

Clinical Genetics

Volumn 75, Issue 2, 2009, Pages 190-194

  Lee, K A ^a   Williams, B ^b   Roza, K ^a   Ferguson, H ^b   David, K ^c   Eddleman, K ^a   Stone, J ^a   Edelmann, L ^a   Richard, G ^b   Gelb, B D ^a   Kornreich, R ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b GENEDX   (United States)

^c METROPOLITAN HOSPITAL CENTER   (United States)

Author keywords

Cystic hygroma; Noonan syndrome; Nuchal translucency; PTPN11 gene analysis

Indexed keywords

PROTEIN TYROSINE PHOSPHATASE; PROTEIN TYROSINE PHOSPHATASE NON RECEPTOR 11; PROTEIN TYROSINE PHOSPHATASE SHP 2; UNCLASSIFIED DRUG;

ARTICLE; CYSTIC LYMPHANGIOMA; DIAGNOSTIC TEST; ECHOGRAPHY; FETUS; FETUS HYDROPS; GENETIC ANALYSIS; GENETIC COUNSELING; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NOONAN SYNDROME; PRENATAL DIAGNOSIS; PREVALENCE; PRIORITY JOURNAL; PROGNOSIS; RETROSPECTIVE STUDY; RISK ASSESSMENT;

ABNORMALITIES, MULTIPLE; ADULT; FEMALE; FETUS; HUMANS; LYMPHANGIOMA, CYSTIC; NOONAN SYNDROME; PRENATAL DIAGNOSIS; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11; RETROSPECTIVE STUDIES; ULTRASONOGRAPHY, PRENATAL;

EID: 58849083307     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01085.x     Document Type: Article

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