Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis

Pediatrics

Volumn 126, Issue 2, 2010, Pages

  Wilkie, Andrew O M ^a,d,e   Byren, Jo C ^d   Hurst, Jane A ^e   Jayamohan, Jayaratnam ^d   Johnson, David ^d   Knight, Samantha J L ^b,c   Lester, Tracy ^e   Richards, Peter G ^d   Twigg, Stephen R F ^a   Wall, Steven A ^d  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^e CHURCHILL HOSPITAL   (United Kingdom)

Author keywords

Coronal synostosis; Craniosynostosis; FGFR2; FGFR3; Muenke syndrome; TWIST1

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 3;

ACROCEPHALOSYNDACTYLY; ARTICLE; CHILD; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DISORDER; CLINICAL ASSESSMENT; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER ASSISTED TOMOGRAPHY; CRANIOFACIAL SURGERY; CRANIOFACIAL SYNOSTOSIS; CRANIOFRONTONASAL SYNDROME; CROUZON SYNDROME; GENE MUTATION; GENETIC SCREENING; HUMAN; HYPOCHONDROPLASIA; INFANT; KARYOTYPE 46,XX; KARYOTYPE 46,XY; KARYOTYPE 47,XXX; MAJOR CLINICAL STUDY; MUENKE SYNDROME; MULTISUTURE; NAIL PATELLA SYNDROME; NEWBORN; OSTEOTOMY; PATHOGENESIS; PATIENT MONITORING; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; PROGNOSIS; RAINE SYNDROME; SKULL MALFORMATION;

CHROMOSOME ABERRATIONS; CRANIOSYNOSTOSES; CYTOGENETIC ANALYSIS; EXONS; GENETIC DISEASES, INBORN; HUMANS; INFANT; INFANT, NEWBORN; MOLECULAR BIOLOGY; NEUROSURGICAL PROCEDURES; POINT MUTATION; PREVALENCE; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; RECONSTRUCTIVE SURGICAL PROCEDURES; SIGNAL TRANSDUCTION;

EID: 77955481154     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2009-3491     Document Type: Article

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