Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations

American Journal of Medical Genetics, Part A

Volumn 152, Issue 11, 2010, Pages 2768-2774

  Derbent, Murat ^a   Oncel, Yekta ^a   Tokel, Kürşad ^a   Varan, Birgül ^a   Haberal, Ayşegül ^a   YaziCi, A Canan ^a   Legius, Eric ^b   Ozbek, Namik ^a  

^a BASKENT UNIVERSITY   (Turkey)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

Bleeding diathesis; Coagulation; Factor VIII; Factor XI; Factor XII; Myelodysplasia; Noonan syndrome; Protein C; PTPN11 gene

Indexed keywords

BLOOD CLOTTING FACTOR 11; BLOOD CLOTTING FACTOR 12; PROTEIN C; PROTEIN TYROSINE PHOSPHATASE SHP 2;

ADOLESCENT; ARTICLE; BLEEDING TENDENCY; BLOOD CLOTTING DISORDER; BLOOD CLOTTING TEST; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FEMALE; FOLLOW UP; GENE MUTATION; HEMATOLOGICAL PARAMETERS; HUMAN; INFANT; MALE; MORPHOLOGICAL TRAIT; MYELODYSPLASTIC SYNDROME; NOONAN SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; THROMBOCYTE COUNT;

ADOLESCENT; BLOOD COAGULATION; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; MALE; MUTATION; NOONAN SYNDROME; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11;

EID: 78049291021     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33713     Document Type: Article

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