Century of Jackson-Weiss syndrome: Further definition of clinical and radiographic findings in "lost" descendants of the original kindred

American Journal of Medical Genetics

Volumn 100, Issue 4, 2001, Pages 315-324

  Heike, Carrie ^a   Seto, Marianne ^a   Hing, Anne ^a   Palidin, Angelisa ^a   Hu, Fen Z ^b   Preston, Robert A ^b   Ehrlich, Garth D ^b   Cunningham, Michael ^c  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b ALLEGHENY GENERAL HOSPITAL   (United States)

^c UNIVERSITY OF WASHINGTON   (United States)

Author keywords

Craniosynostosis; FGFR2 mutation; Fibular ray defect

Indexed keywords

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

AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; CRANIAL SUTURE; CRANIOFACIAL SYNOSTOSIS; FEMALE; FOOT MALFORMATION; GENE EXPRESSION; GENE MUTATION; HUMAN; INFANT; JACKSON WEISS SUNDROME; MALE; PHENOTYPE; PRIORITY JOURNAL; RADIOGRAPHY;

ACROCEPHALOSYNDACTYLIA; ADULT; AMINO ACID SUBSTITUTION; BONE DEVELOPMENT; CRANIOSYNOSTOSES; DNA MUTATIONAL ANALYSIS; FEMALE; FOOT DEFORMITIES, CONGENITAL; HUMANS; INFANT; MALE; PEDIGREE; PHENOTYPE; POINT MUTATION; RECEPTORS, FIBROBLAST GROWTH FACTOR; SEQUENCE ANALYSIS; SYNDROME;

GENETTA;

EID: 0035874031     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1266     Document Type: Article

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