Diagnosis of Noonan syndrome and related disorders using target next generation sequencing

BMC Medical Genetics

Volumn 15, Issue 1, 2014, Pages

  Lepri, Francesca R ^a   Scavelli, Rossana ^b   Digilio, Maria C ^a   Gnazzo, Maria ^a   Grotta, Simona ^a   Dentici, Maria L ^a   Pisaneschi, Elisa ^a   Sirleto, Pietro ^a   Capolino, Rossella ^a   Baban, Anwar ^a   Russo, Serena ^a   Franchin, Tiziana ^a   Angioni, Adriano ^a   Dallapiccola, Bruno ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b ILLUMINA INC   (United States)

Author keywords

Molecular diagnosis; Next generation sequencing; Noonan syndrome; RASopathies

Indexed keywords

B RAF KINASE; CBL PROTEIN; K RAS PROTEIN; PROTEIN TYROSINE PHOSPHATASE SHP 2; SOS PROTEIN; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED FACTOR 1;

ADOLESCENT; ALOPECIA; ANGIOMA; ARTICLE; CHILD; CONTROLLED STUDY; EPICANTHUS; EXON; FALSE NEGATIVE RESULT; FEMALE; GENE; GENE IDENTIFICATION; GENE LIBRARY; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HRAS GENE; HUMAN; HYPERTELORISM; INFANT; KRAS GENE; MACROCEPHALY; MAJOR CLINICAL STUDY; MALE; MAP2K1 GENE; MAP2K2 GENE; MICROGNATHIA; NOONAN SYNDROME; NRAS GENE; PALPEBRAL FISSURE ANOMALY; PANCREAS CYST; PRESCHOOL CHILD; PTOSIS; SCHOOL CHILD; SENSITIVITY AND SPECIFICITY; SHOC GENE; SHORT STATURE;

ADOLESCENT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENOMICS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; MALE; MUTATION; NOONAN SYNDROME; REPRODUCIBILITY OF RESULTS;

EID: 84892757571     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-15-14     Document Type: Article

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