Muenke Syndrome (FGFR3-Related Craniosynostosis) : Expansion of the Phenotype and Review of the Literature
- Author
- DOHERTY, Emily S1 2 ; LACBAWAN, Felicitas1 ; BROOKS, Brian P5 ; IMMKEN, Ladonna8 ; LOWRY, R. Brian9 ; KIMONIS, Virginia10 ; SHANSKE, Alan L11 ; SARQUIS JEHEE, Fernanda12 ; PASSOS BUENO, Maria Rita12 ; KNIGHTLY, Carol13 ; MCDONALD-MCGINN, Donna13 ; ZACKAI, Elaine H13 ; HADLEY, Donald W1 ; MUENKE, Maximilian1 ; BREWER, Carmen3 ; ZALEWSKI, Christopher3 ; KIM, H. Jeff3 ; SOLOMON, Beth4 ; ROSENBAUM, Kenneth5 ; DOMINGO, Demetrio L6 ; HART, Thomas C6 7
[1] National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States
[2] Carilion Clinic, Roanoke, Virginia, United States
[3] National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, United States
[4] Barren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, Maryland, United States
[5] Children's National Medical Center, Washington, District of Columbia, United States
[6] National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland, United States
[7] National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States
[8] Specially for Children, Austin, Texas, United States
[9] Department of Medical Genetics, Alberta Children's Hospital and University of Calgary, Calgary, Alberta, Canada
[10] children's Hospital Boston, Boston, Massachusetts, United States
[11] Children's Hospital Montefiore, Bronx, New York, United States
[12] University of São Paulo, São Paulo, Brazil
[13] The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States - Source
American journal of medical genetics. Part A. 2007, Vol 143, Num 24, pp 3204-3215, 12 p ; ref : 1 p.1/2
- Publisher
- Wiley-Liss, Hoboken, NJ
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- Muenke syndrome coronal suture synostosis craniosynostosis developmental delay fibroblast growth factor receptor 3 hearing loss speech delay
- Keyword (fr)
- Crâniosynostose Expansion Facteur croissance fibroblaste Phénotype Retard langage Revue bibliographique Récepteur facteur croissance Surdité Syndrome Synostose Trouble du développement Dysostose Pathologie ORL Pathologie du crâne Pathologie du système nerveux Pathologie du système ostéoarticulaire Trouble de l'audition
- Keyword (en)
- Craniosynostosis Expansion Fibroblast growth factor Phenotype Language retardation Bibliographic review Growth factor receptor Hearing loss Syndrome Synostosis Developmental disorder Dysostosis ENT disease Skull disease Nervous system diseases Diseases of the osteoarticular system Auditory disorder
- Keyword (es)
- Craneosinóstosis Expansión Factor crecimiento fibroblasto Fenotipo Retardo lenguaje Revista bibliográfica Receptor factor crecimiento Sordera Síndrome Sinóstosis Trastorno desarrollo Disostosis ORL patología Cráneo patología Sistema nervioso patología Sistema osteoarticular patología Trastorno auditivo
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B10 Otorhinolaryngology. Stomatology / 002B10D Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology / 002B10D02 Non tumoral diseases
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B15 Diseases of the osteoarticular system / 002B15H Malformations and congenital and or hereditary diseases involving bones. Joint deformations
- Discipline
- Medical genetics Osteoarticular pathology Otorhinolaryngology. Stomatology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 19913031
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1002/ajmg.a.32078 
https://dx.doi.org/10.1002/ajmg.a.32078
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