Ser351Cys mutation in the fibroblast growth factor receptor 2 gene results in severe Pfeiffer syndrome

Clinical Dysmorphology

Volumn 15, Issue 3, 2006, Pages 187-188

  Stevens, Cathy A ^a   Roeder, Elizabeth R ^b  

^a UNIVERSITY OF TENNESSEE COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

Author keywords

Cloverleaf skull; Craniosynostosis; FGFR2 gene; Pfeiffer syndrome; Ser351Cys mulution

Indexed keywords

CYSTEINE; FIBROBLAST GROWTH FACTOR RECEPTOR 2; SERINE; CYSTINE; FGFR2 PROTEIN, HUMAN;

ACROCEPHALOSYNDACTYLY; ARTICLE; BRAIN VENTRICLE PERITONEUM SHUNT; CASE REPORT; CATARACT; CONTRACTURE; DISEASE SEVERITY; FACE MALFORMATION; FEMALE; GENE MUTATION; HEAD CIRCUMFERENCE; HUMAN; HYDROCEPHALUS; MALE; NEWBORN; PRIORITY JOURNAL; RECEPTOR GENE; SEIZURE; SKULL MALFORMATION; COMPUTER ASSISTED TOMOGRAPHY; FACIES; FATALITY; GENETICS; INFANT; MISSENSE MUTATION; PATHOLOGY;

ACROCEPHALOSYNDACTYLIA; CYSTINE; FACIES; FATAL OUTCOME; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; SERINE; TOMOGRAPHY, X-RAY COMPUTED;

EID: 33748179333     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.mcd.0000198930.32200.73     Document Type: Article

References (5)

1. Chun K, Siegel-Bartelt J, Chitayat D, Phillips J, Ray PN (1998). FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome. Am J Med Genet 77:219-224.
2. Gripp KW, Stolle CA, McDonald-McGinn DM, Markowitz RI, Bartlett SP, Katowitz JA, et al. (1998). Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III. Am J Med Genet 78:356-360.
3. Mathijssen IMJ, Vaandrager JM, Hoogeboom AJM, Hesseling-Janssen ALW, van den Ouweland AMW (1998). Pfeiffer's syndrome resulting from a S351C mutation in the fibroblast growth factor receptor-2 gene. J Craniofac Surg 9:207-209.
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