[Genetic identification of a case of Noonan syndrome and treatment with growth hormone].
Servicio de Pediatría, Hospital Universitario de la Ribera, Alzira, Valencia, España.
Graciela
G
Pi
Servicio de Genética y Biología Molecular, Hospital Universitario de la Ribera, Alzira, Valencia, España. Electronic address: azuniga@hospital-ribera.com.
Angel
A
Zúñiga
Servicio de Pediatría, Hospital Universitario de la Ribera, Alzira, Valencia, España.
Elena
E
Gastaldo
Servicio de Genética y Biología Molecular, Hospital Universitario de la Ribera, Alzira, Valencia, España.
Montserrat
M
Ortiz
D019943:Amino Acid Substitution; D002648:Child; D003937:Diagnosis, Differential; D005091:Exons / Q000235:genetics; D005260:Female; D006579:Heterozygote; D019382:Human Growth Hormone / Q000627:therapeutic use; D006801:Humans; D020125:Mutation, Missense; D009634:Noonan Syndrome / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D017354:Point Mutation; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics*; D014424:Turner Syndrome / Q000175:diagnosis
D019382:Human Growth Hormone; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11