A de novo T73I mutation in PTPN11 in a neonate with severe and prolonged congenital thrombocytopenia and noonan syndrome

Neonatology

Volumn 104, Issue 1, 2013, Pages 1-5

  Christensen, Robert D ^a   Yaish, Hassan M ^b   Leon, Eyby L ^b   Sola Visner, Martha C ^c   Agrawal, Pankaj B ^c  

^a Intermountain Healthcare ^*  (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

c MPL; CAMT; Congenital amegakaryocytic thrombocytopenia; Noonan syndrome; Platelets; PTPN11; Thrombocytopenia

Indexed keywords

ELTROMBOPAG; GENOMIC DNA; ISOLEUCINE; PROTEIN TYROSINE PHOSPHATASE SHP 2; THREONINE; THROMBOPOIETIN;

ANEUPLOIDY; ARTICLE; BONE MARROW BIOPSY; CASE REPORT; CONGENITAL INFECTION; DISEASE SEVERITY; DNA SEQUENCE; DRUG TREATMENT FAILURE; EXON; FANCONI ANEMIA; GENE AMPLIFICATION; GENE IDENTIFICATION; GENE MUTATION; HUMAN; HYPERTELORISM; KARYOTYPE; MALE; MICROARRAY ANALYSIS; NEONATAL THROMBOCYTOPENIA; NEWBORN; NOONAN SYNDROME; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; SIGNAL TRANSDUCTION; THROMBOCYTE COUNT; THROMBOCYTE TRANSFUSION; THROMBOCYTE VOLUME; CLINICAL FEATURE; HUMAN TISSUE;

ADULT; BONE MARROW; FEMALE; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; NOONAN SYNDROME; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11; RECEPTORS, THROMBOPOIETIN; SIGNAL TRANSDUCTION; THROMBOCYTOPENIA; THROMBOPOIETIN;

EID: 84874257682     PISSN: 16617800     EISSN: 16617819     Source Type: Journal    
DOI: 10.1159/000346375     Document Type: Article

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