PTPN11 mutations in noonan syndrome: Molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity

American Journal of Human Genetics

Volumn 70, Issue 6, 2002, Pages 1555-1563

  Tartaglia, Marco ^a,b   Kalidas, Kamini ^c   Shaw, Adam ^c   Song, Xiaoling ^a   Musat, Dan L ^a   Van der Burgt, Ineke ^d   Brunner, Han G ^d   Bertola, Débora R ^e   Crosby, Andrew ^c   Ion, Andra ^c   Kucherlapati, Raju S ^f   Jeffery, Steve ^c   Patton, Michael A ^c   Gelb, Bruce D ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^c ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e UNIVERSITY OF SÃO PAULO   (Brazil)

^f HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN TYROSINE PHOSPHATASE;

ARTICLE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; CRYPTORCHISM; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENOTYPE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NOONAN SYNDROME; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; PTPN11 GENE; PULMONARY VALVE STENOSIS; SHORT STATURE; SRC HOMOLOGY DOMAIN; THORAX DISEASE;

EID: 18344370436     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/340847     Document Type: Article

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