Sacral appendage associated with a mutation in FGFR2

Clinical Dysmorphology

Volumn 11, Issue 3, 2002, Pages 221-222

  Sweeney, Elizabeth ^a   Ellis, Ian ^a   May, Paul ^a  

^a ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

Craniosynostosis; FGFR2; Sacral appendage

Indexed keywords

GROWTH FACTOR RECEPTOR; FGFR2 PROTEIN, HUMAN; FIBROBLAST GROWTH FACTOR RECEPTOR; FIBROBLAST GROWTH FACTOR RECEPTOR 2; PROTEIN TYROSINE KINASE;

ACROCEPHALOSYNDACTYLY; ARTICLE; CASE REPORT; CHILD; CHOANA ATRESIA; CRANIOFACIAL SYNOSTOSIS; DNA DETERMINATION; EXOPHTHALMOS; GENE MUTATION; HUMAN; MALE; PRIORITY JOURNAL; SACRUM; CONGENITAL MALFORMATION; GENETICS; LETTER; MUTATION; NEWBORN; PATHOLOGY;

CRANIOSYNOSTOSES; HUMANS; INFANT, NEWBORN; MALE; MUTATION; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; RECEPTORS, FIBROBLAST GROWTH FACTOR; SACRUM;

EID: 0036018139     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200207000-00016     Document Type: Article

References (6)

1. FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome
2. Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome Type III
3. Spinal anomalies in Pfeiffer syndrome
4. Ocular dysgenesis in Craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation
5. Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus
6. An infant with Crouzon's syndrome with a cartilaginous trachea and a human tail