The Fibroblast Growth Factor Receptor 2 p.Ala172Phe Mutation in Pfeiffer Syndrome-History Repeating Itself

American Journal of Medical Genetics, Part A

Volumn 161, Issue 5, 2013, Pages 1158-1163

  Jay, Sally ^a   Wiberg, Akira ^a   Swan, Marc ^a   Lester, Tracy ^b   Williams, Louise J ^b   Taylor, Indira B ^c   Johnson, David ^a   Wilkie, Andrew O M ^c  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^b CHURCHILL HOSPITAL   (United Kingdom)

^c UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Craniosynostosis; FGFR2 A172F mutation; Pfeiffer syndrome; Selfish spermatogonia

Indexed keywords

ALANINE; FIBROBLAST GROWTH FACTOR RECEPTOR 2; PHENYLALANINE; FGFR2 PROTEIN, HUMAN;

ACROCEPHALOSYNDACTYLY; AMINO ACID SUBSTITUTION; ANTHROPOMETRIC PARAMETERS; ARTICLE; BRITISH; CASE REPORT; CEPHALIC INDEX; CLINICAL FEATURE; CONTROLLED STUDY; CRANIOFACIAL SYNOSTOSIS; DNA SEQUENCE; ETHNIC GROUP; FACE DYSMORPHIA; FAMILY ASSESSMENT; FIBROBLAST GROWTH FACTOR RECEPTOR 2 GENE; GAIN OF FUNCTION MUTATION; GENOTYPE; GERMAN; GRANDPARENT; HETEROZYGOSITY; HUMAN; HYPERTELORISM; IMMUNOGLOBULIN LIKE DOMAIN; INFANT; MALE; MIDFACE HYPOPLASIA; MISSENSE MUTATION; MOTHER; MUTATIONAL ANALYSIS; PALATE MALFORMATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DOMAIN; SINGLE NUCLEOTIDE POLYMORPHISM; FEMALE; GENETIC SCREENING; GENETICS; GERMANY; UNITED KINGDOM;

ACROCEPHALOSYNDACTYLIA; FEMALE; GENETIC TESTING; GENOTYPE; GERMANY; GREAT BRITAIN; HUMANS; INFANT; MALE; MUTATION, MISSENSE; PHENOTYPE; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2;

EID: 84876787926     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35842     Document Type: Article

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