Severe craniosynostosis with Noonan syndrome phenotype associated with SHOC2 mutation: Clinical evidence of crosslink between FGFR and RAS signaling pathways

American Journal of Medical Genetics, Part A

Volumn 164, Issue 11, 2014, Pages 2869-2872

  Takenouchi, Toshiki ^a   Sakamoto, Yoshiaki ^a   Miwa, Tomoru ^a   Torii, Chiharu ^a   Kosaki, Rika ^b   Kishi, Kazuo ^a   Takahashi, Takao ^a   Kosaki, Kenjiro ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

Craniosynostosis; FGFR; RAS; SHOC2

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR; PROPRANOLOL; RAS PROTEIN; PROTEIN P21; SHOC2 PROTEIN, HUMAN; SIGNAL PEPTIDE;

ARTICLE; BRAIN VENTRICLE DILATATION; CASE REPORT; CHILD; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CORPUS CALLOSUM AGENESIS; CRANIOFACIAL SYNOSTOSIS; CRANIOPLASTY; DISEASE ASSOCIATION; DISEASE SEVERITY; ECHOCARDIOGRAPHY; EXON; FETUS HYDROPS; GENE; HEAD CIRCUMFERENCE; HUMAN; HYPERTELORISM; MACROCEPHALY; MALE; MICROGNATHIA; MUTATIONAL ANALYSIS; NOONAN SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; PATENT DUCTUS ARTERIOSUS; PATENT FORAMEN OVALE; PLEURA EFFUSION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN CROSS LINKING; PROTEIN PROTEIN INTERACTION; PSYCHOMOTOR DEVELOPMENT; RESPIRATORY DISTRESS; RETROSPECTIVE STUDY; SHOC2 GENE; SIGNAL TRANSDUCTION; SUPRAVENTRICULAR TACHYCARDIA; TACHYPNEA; WEIGHT GAIN; CONGENITAL MALFORMATION; CRANIOSYNOSTOSES; DIFFERENTIAL DIAGNOSIS; DNA MUTATIONAL ANALYSIS; FACIES; FOUR DIMENSIONAL COMPUTED TOMOGRAPHY; GENETICS; METABOLISM; MUTATION; PHENOTYPE; SEVERITY OF ILLNESS INDEX; SKULL;

CHILD, PRESCHOOL; CRANIOSYNOSTOSES; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; FACIES; FOUR-DIMENSIONAL COMPUTED TOMOGRAPHY; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MUTATION; NOONAN SYNDROME; PHENOTYPE; PROTO-ONCOGENE PROTEINS P21(RAS); RECEPTORS, FIBROBLAST GROWTH FACTOR; SEVERITY OF ILLNESS INDEX; SIGNAL TRANSDUCTION; SKULL;

EID: 84911367217     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36705     Document Type: Article

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