Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene

Genetic Counseling

Volumn 16, Issue 4, 2005, Pages 403-406

  Mantilla Capacho, J M ^a   Arnaud, L ^a   Diaz Rodriguez M ^a   Barros Núñez, Patricio ^a  

^a UNIVERSITY OF GUADALAJARA   (Mexico)

Author keywords

Apert syndrome; Craniosynostosis; FGFR2 gene; Preaxial polydactyly; Syndactyly

Indexed keywords

ARGININE; FIBROBLAST GROWTH FACTOR RECEPTOR 2; PROLINE; SERINE; TRYPTOPHAN;

ACROCEPHALOSYNDACTYLY; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRACHYCEPHALY; CASE REPORT; CLINICAL FEATURE; CRANIOFACIAL SYNOSTOSIS; FEMALE; FGFR2 GENE; FOOT MALFORMATION; FOOT RADIOGRAPHY; GENE MUTATION; HAND MALFORMATION; HAND RADIOGRAPHY; HUMAN; INFANT; POLYDACTYLY; RARE DISEASE; RECEPTOR GENE; SYNDACTYLY; TOE MALFORMATION; ANAMNESIS; BONE RADIOGRAPHY;

ACROCEPHALOSYNDACTYLIA; CRANIOSYNOSTOSES; FEMALE; HUMANS; INFANT; KARYOTYPING; POINT MUTATION; POLYDACTYLY; PSYCHOMOTOR DISORDERS; SYNDACTYLY; TOMOGRAPHY, X-RAY COMPUTED;

EID: 30444449673     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (11)

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