Further evidence that fibroblast growth factor receptor 2 mutations cause Antley-Bixler syndrome [5]

Acta Paediatrica, International Journal of Paediatrics

Volumn 90, Issue 5, 2001, Pages 595-597

  Tsai, F J ^a   Wu, J Y ^a   Yang, C F ^a   Tsai, C H ^a  

^a CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR; FIBROBLAST GROWTH FACTOR RECEPTOR 2; UNCLASSIFIED DRUG;

ANTLEY BIXLER SYNDROME; CASE REPORT; CLINICAL FEATURE; CRANIOFACIAL SYNOSTOSIS; CROUZON SYNDROME; FEMALE; GENE MUTATION; HUMAN; INFECTIOUS MONONUCLEOSIS; LETTER; PRIORITY JOURNAL;

EID: 0034970491     PISSN: 08035253     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2001.tb00811.x     Document Type: Letter

References (8)

1. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
2. Mutations in the fibroblast growth factor receptors: Phenotypic consequences during eukaryotic development
3. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome
4. FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome
5. Patient described by Chun et al. may not present Antley-Bixler syndrome
6. Not Antley-Bixler syndrome
7. Evidence of digenic inheritance in some cases of Antley-Bixler syndrome?
8. Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III