Pfeiffer syndrome: Clinical and genetic findings in five brazilian families

Medicina Oral, Patologia Oral y Cirugia Bucal

Volumn 20, Issue 1, 2015, Pages e52-e58

  Júnior, Hercílio Martelli ^a   de Aquino, Sibele Nascimento ^b   Machado, Renato Assis ^b   Leão, Letícia Lima ^c   Coletta, Ricardo Della ^b   Burle Aguiar, Marcos José ^c  

^a STATE UNIVERSITY OF MONTES CLAROS   (Brazil)

^b UNIVERSITY OF CAMPINAS   (Brazil)

^c FEDERAL UNIVERSITY OF MINAS GERAIS   (Brazil)

Author keywords

Craniosynostosis; FGFR2; Mutation; Pfeiffer syndrome

Indexed keywords

ACROCEPHALOSYNDACTYLY; ADOLESCENT; ARTICLE; BRAZILIAN; CASE REPORT; CHILD; CLINICAL TRIAL; CRANIOFACIAL SYNOSTOSIS; DISEASE SEVERITY; DNA EXTRACTION; DNA POLYMORPHISM; DNA SEQUENCE; EXON; EXOPHTHALMOS; FEMALE; FIBROBLAST GROWTH FACTOR RECEPTOR 1 GENE; FIBROBLAST GROWTH FACTOR RECEPTOR 2 GENE; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; LIMB MALFORMATION; MALE; MIDFACE HYPOPLASIA; PHENOTYPE; POLYMERASE CHAIN REACTION; SYNDACTYLY; ACROCEPHALOSYNDACTYLIA; ADULT; BRAZIL; GENETICS; MIDDLE AGED; MUTATION; PEDIGREE; PRESCHOOL CHILD;

ACROCEPHALOSYNDACTYLIA; ADOLESCENT; ADULT; BRAZIL; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE;

EID: 84920274422     PISSN: 16984447     EISSN: 16986946     Source Type: Journal    
DOI: 10.4317/medoral.20032     Document Type: Article

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