Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature

American Journal of Medical Genetics, Part A

Volumn 167, Issue 11, 2015, Pages 2657-2663

  Addissie, Yonit A ^a   Kotecha, Udhaya ^b   Hart, Rachel A ^a   Martinez, Ariel F ^a   Kruszka, Paul ^a   Muenke, Maximilian ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b SIR GANGA RAM HOSPITAL   (India)

Author keywords

Craniosynostosis; KRAS; Noonan syndrome; RAS MAPK; RASopathy

Indexed keywords

K RAS PROTEIN; KRAS PROTEIN, HUMAN; PROTEIN P21;

ARTICLE; BONE GROWTH; CASE REPORT; CRANIAL SUTURE; CRANIOFACIAL SYNOSTOSIS; DIFFERENTIAL DIAGNOSIS; FACE DYSMORPHIA; FEMALE; GERMLINE MUTATION; HUMAN; INFANT; NOONAN SYNDROME; PHENOTYPE; PRIORITY JOURNAL; COMPLICATION; COMPUTER ASSISTED TOMOGRAPHY; DNA SEQUENCE; EXOME; FACIES; GENETICS; MUTATION; NEWBORN; RADIOGRAPHY; SKULL; THREE DIMENSIONAL IMAGING;

CRANIOSYNOSTOSES; EXOME; FACIES; FEMALE; HUMANS; IMAGING, THREE-DIMENSIONAL; INFANT, NEWBORN; MUTATION; NOONAN SYNDROME; PHENOTYPE; PROTO-ONCOGENE PROTEINS P21(RAS); SEQUENCE ANALYSIS, DNA; SKULL; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84947023685     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37259     Document Type: Article

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