Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery

Clinical Genetics

Volumn 57, Issue 2, 2000, Pages 137-139

  Von Gernet, S ^a   Golla, Astrid ^b   Ehrenfels, Y ^c   Schuffenhauer, S ^c   Fairley, J D ^a  

^a Nymphenburger Praxis für Plastische and Ästhetische Chirurgie   (Germany)

^b Abt Med Genetk der Kinderklinik   (Germany)

^c NONE

Author keywords

Apert syndrome; Craniofacial surgery; Genotype phenotype correlation

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR;

ACROCEPHALOSYNDACTYLY; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CLINICAL ARTICLE; CRANIOFACIAL SURGERY; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; INFANT; MALE; PHENOTYPE; PRIORITY JOURNAL; SYNDACTYLY; TREATMENT OUTCOME;

ACROCEPHALOSYNDACTYLIA; CRANIOTOMY; FACIES; FEMALE; GENOTYPE; HUMANS; INFANT; MALE; MUTATION; PHENOTYPE; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; RECEPTORS, FIBROBLAST GROWTH FACTOR; SYNDACTYLY; TREATMENT OUTCOME;

EID: 0033998110     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2000.570208.x     Document Type: Article

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