Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation

American Journal of Medical Genetics, Part A

Volumn 164, Issue 12, 2014, Pages 3176-3179

  Bessenyei, Beáta ^a   Tihanyi, Mariann ^b   Hartwig, Marianna ^b   Szakszon, Katalin ^a   Oláh, Éva ^a  

^a UNIVERSITY OF DEBRECEN   (Hungary)

^b Department of Neurology   (Hungary)

Author keywords

Clinodactyly; Craniosynostosis; FGFR1; Pfeiffer syndrome; Syndactyly

Indexed keywords

ARGININE; FIBROBLAST GROWTH FACTOR RECEPTOR 1; FIBROBLAST GROWTH FACTOR RECEPTOR 3; HYDROCORTISONE; PROLINE; FGFR1 PROTEIN, HUMAN;

ACROCEPHALOSYNDACTYLY; ADULT; ARTICLE; BLOOD EXAMINATION; BRACHYCEPHALY; CASE REPORT; CHILD; CRANIOFACIAL SYNOSTOSIS; FACE DYSMORPHIA; FEMALE; FGFR1 GENE; FGFR3 GENE; FINGER MALFORMATION; GENE; GENE EXPRESSION; GENE SEQUENCE; GENETIC COUNSELING; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; HYDROCORTISONE BLOOD LEVEL; HYPERTELORISM; LIMB; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEWBORN; PATHOGENESIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SKULL DEFECT; SKULL RADIOGRAPHY; TWIST1 GENE; VARUS DEFORMITY; DOMINANT GENE; GENETICS; HUNGARY; PATHOLOGY; PEDIGREE;

ACROCEPHALOSYNDACTYLIA; FEMALE; GENES, DOMINANT; HUMANS; HUNGARY; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 1;

EID: 84911163643     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36774     Document Type: Article

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