Muenke syndrome (FGFR3-related craniosynostosis): Expansion of the phenotype and review of the literature

American Journal of Medical Genetics, Part A

Volumn 143, Issue 24, 2007, Pages 3204-3215

  Doherty, Emily S ^a,m   Lacbawan, Felicitas ^a   Hadley, Donald W ^a   Brewer, Carmen ^b   Zalewski, Christopher ^b   Kim, H Jeff ^b   Solomon, Beth ^c   Rosenbaum, Kenneth ^d   Domingo, Demetrio L ^e   Hart, Thomas C ^e   Brooks, Brian P ^d,f   Immken, LaDonna ^g   Lowry, R Brian ^h   Kimonis, Virginia ⁱ   Shanske, Alan L ^j   Jehee, Fernanda Sarquis ^k   Bueno, Maria Rita Passos ^k   Knightly, Carol ^l   McDonald McGinn, Donna ^l   Zackai, Elaine H ^l   Muenke, Maximilian ^a   more..

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

^d CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^e NATIONAL INSTITUTE OF DENTAL AND CRANIOFACIAL RESEARCH   (United States)

^f NATIONAL EYE INSTITUTE   (United States)

^g Specially for Children   (United States)

^h UNIVERSITY OF CALGARY   (Canada)

ⁱ BOSTON CHILDREN S HOSPITAL   (United States)

^j CHILDREN S HOSPITAL AT MONTEFIORE   (United States)

^k UNIVERSITY OF SÃO PAULO   (Brazil)

^l CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^m CARILION CLINIC   (United States)

more..

Author keywords

Coronal suture synostosis; Craniosynostosis; Developmental delay; Fibroblast growth factor receptor 3; Hearing loss; Muenke syndrome; Speech delay

Indexed keywords

ARGININE; FIBROBLAST GROWTH FACTOR RECEPTOR 3; PROLINE;

ADULT; AGED; AUDIOGRAPHY; AUDIOLOGY; AUTOSOMAL DOMINANT DISORDER; CHILD; COMPUTER ASSISTED TOMOGRAPHY; CONFERENCE PAPER; CONTROLLED STUDY; CRANIOFACIAL SYNOSTOSIS; DYSPHAGIA; FEEDING DISORDER; FEMALE; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MUENKE SYNDROME; NERVE CELL DIFFERENTIATION; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL;

ADULT; AGED; AUDIOMETRY; CHILD, PRESCHOOL; CRANIOSYNOSTOSES; DEVELOPMENTAL DISABILITIES; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT; MALE; MUTATION; PEDIGREE; PHENOTYPE; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; SEX FACTORS; SPEECH DISORDERS; SYNDROME; TOMOGRAPHY, X-RAY COMPUTED;

EID: 37249065686     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32078     Document Type: Conference Paper

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