Abnormal spliceform expression associated with splice acceptor mutations in exon IIIc of FGFR2 [2]

American Journal of Medical Genetics

Volumn 111, Issue 1, 2002, Pages 105-

  Wilkie, Andrew O M ^a  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR 10; FIBROBLAST GROWTH FACTOR RECEPTOR 2; KERATINOCYTE GROWTH FACTOR; KERATINOCYTE GROWTH FACTOR RECEPTOR; FIBROBLAST GROWTH FACTOR RECEPTOR;

ACROCEPHALOSYNDACTYLY; CRANIOFACIAL SYNOSTOSIS; EXON; GENE MUTATION; HUMAN; LETTER; MISSENSE MUTATION; PRIORITY JOURNAL; RNA SPLICING; SYNDACTYLY; ALTERNATIVE RNA SPLICING; FOOT MALFORMATION; GENETICS; HAND MALFORMATION; LIMB; LIMB MALFORMATION; MESODERM; METABOLISM; MUTATION; NOMENCLATURE; NOTE; PHENOTYPE; PRENATAL DEVELOPMENT;

ACROCEPHALOSYNDACTYLIA; ALTERNATIVE SPLICING; CRANIOSYNOSTOSES; EXONS; EXTREMITIES; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; LIMB DEFORMITIES, CONGENITAL; MESODERM; MUTATION; PHENOTYPE; RECEPTORS, FIBROBLAST GROWTH FACTOR; RNA SPLICE SITES; TERMINOLOGY; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2;

EID: 0037158283     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10486     Document Type: Letter

References (8)

1. Nomenclature for the description of human sequence variations
2. A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes
3. Pfeiffer syndrome is not caused by haploinsufficient mutations of FGFR2
4. De novo Alu element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome
5. Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2
6. Pfeiffer syndrome caused by haploinsufficient mutation of FGFR2
7. FGFs, their receptors, and human limb malformations: Clinical and molecular correlations
8. Uncoupling fibroblast growth factor receptor 2 ligand binding specificity leads to Apert syndrome-like phenotypes