Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes

Journal of Medical Genetics

Volumn 40, Issue 9, 2003, Pages 704-708

  Sarkozy, A ^b   Conti, Emanuela ^b   Seripa, D ^b   Digilio, M C ^c   Grifone, N ^b   Tandoi, C ^a   Fazio, V M ^b   Di Ciommo, V ^c   Marino, B ^a   Pizzuti, A ^a   Dallapiccola, B ^b  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; PROTEIN PTPN11; UNCLASSIFIED DRUG;

ANTHROPOMETRY; ARTICLE; ATRIOVENTRICULAR CANAL; COHORT ANALYSIS; CONGENITAL HEART DISEASE; CONTROLLED STUDY; CORRELATION ANALYSIS; ECHOGRAPHY; EXON; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC DISORDER; GENOTYPE; HEART ATRIUM SEPTUM DEFECT; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; LEOPARD SYNDROME; MAJOR CLINICAL STUDY; MALE; MITRAL VALVE DISEASE; NOONAN SYNDROME; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PULMONARY VALVE STENOSIS; SHORT STATURE; THORAX DEFORMITY;

PANTHERA PARDUS;

EID: 0042329925     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.40.9.704     Document Type: Article

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