Low-level mesodermal somatic mutation mosaicism: Late-onset craniofacial and cervical spinal hyperostoses

American Journal of Medical Genetics, Part A

Volumn 164, Issue 3, 2014, Pages 741-747

  Kubota, Yoshitaka ^a   Mitsukawa, Nobuyuki ^a   Uchida, Michiko ^a   Uchida, Yuuki ^a   Akita, Shinsuke ^a   Hasegawa, Masakazu ^a   Satoh, Kaneshige ^a  

^a CHIBA UNIVERSITY   (Japan)

Author keywords

Hyperostosis; Proteus syndrome; V akt murine thymoma viral oncogene homolog 1

Indexed keywords

GENOMIC DNA;

ADULT; AKT1 GENE; ARTICLE; BONE SCINTISCANNING; BRAIN SCINTISCANNING; CASE REPORT; CERVICAL SPINAL HYPEROSTOSIS; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CRANIOFACIAL HYPEROSTOSIS; DENTAL PROCEDURE; DIAGNOSTIC IMAGING; DIFFERENTIAL DIAGNOSIS; DISEASE ACTIVITY; DISEASE ASSOCIATION; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; HUMAN; HYPEROSTOSIS; IMAGE ANALYSIS; MALE; MEDICAL HISTORY; MOLECULAR DYNAMICS; MOLECULAR PATHOLOGY; MOSAICISM; MULTIPLE CANCER; PATIENT ASSESSMENT; PHENOTYPE; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SOMATIC MUTATION;

MURINAE;

HYPEROSTOSIS; PROTEUS SYNDROME; V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 1;

ADULT; AGE OF ONSET; CERVICAL VERTEBRAE; CRANIOFACIAL ABNORMALITIES; DNA MUTATIONAL ANALYSIS; HUMANS; HYPEROSTOSIS; MALE; MESODERM; MOSAICISM; MUTATION; PHENOTYPE; POSITRON-EMISSION TOMOGRAPHY; PROTO-ONCOGENE PROTEINS C-AKT; RADIOGRAPHY, DENTAL; TOMOGRAPHY, X-RAY COMPUTED; YOUNG ADULT;

EID: 84894244247     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36310     Document Type: Article

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