Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.
Sarkozy
A
A
Conti
E
E
Seripa
D
D
Digilio
M C
MC
Grifone
N
N
Tandoi
C
C
Fazio
V M
VM
Di Ciommo
V
V
Marino
B
B
Pizzuti
A
A
Dallapiccola
B
B
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D002658:Developmental Disabilities / Q000473:pathology; D005192:Family Health; D005260:Female; D005838:Genotype; D006130:Growth Disorders / Q000473:pathology; D006330:Heart Defects, Congenital / Q000473:pathology*; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins; D007911:Lentigo / Q000473:pathology; D008297:Male; D009154:Mutation; D009634:Noonan Syndrome / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D018807:Polymorphism, Single-Stranded Conformational; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D013577:Syndrome
D047908:Intracellular Signaling Peptides and Proteins; D004247:DNA; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases