FGFR2 mutation in a patient without typical features of Pfeiffer syndrome - The emerging role of combined NGS and phenotype based strategies

European Journal of Medical Genetics

Volumn 58, Issue 8, 2015, Pages 376-380

  Flöttmann, Ricarda ^a   Knaus, Alexej ^a   Zemojtel, Tomasz ^a   Robinson, Peter N ^a,b,c   Mundlos, Stefan ^a,b,c   Horn, Denise ^a   Spielmann, Malte ^a,b,c  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c Berlin Brandenburg School for Regenerative Therapies (BSRT)   (Germany)

Author keywords

FGFR2; FGFR2 Ala172Asn mutation; Pfeiffer syndrome

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 2; GENOMIC DNA; FGFR2 PROTEIN, HUMAN;

ACROCEPHALOSYNDACTYLY; AMINO ACID SUBSTITUTION; ARTICLE; BIOINFORMATICS; BRACHYDACTYLY; CASE REPORT; CHILD; CLINICAL FEATURE; COMPUTER PROGRAM; CRANIOFACIAL SYNOSTOSIS; DNA SEQUENCE; FEMALE; FINGER MALFORMATION; HETEROZYGOSITY; HUMAN; INTERPHALANGEAL JOINT; METACARPOPHALANGEAL JOINT; MIDFACE HYPOPLASIA; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; PHENOTYPE; PHILTRUM; PRESCHOOL CHILD; SYMPHALANGISM; ACROCEPHALOSYNDACTYLIA; BIOLOGY; CHEMICAL STRUCTURE; CONGENITAL MALFORMATION; FINGER PHALANX; GENE EXPRESSION; GENETICS; HETEROZYGOTE; HIGH THROUGHPUT SEQUENCING; PATHOLOGY; PROCEDURES; RADIOGRAPHY; TOE PHALANX;

ACROCEPHALOSYNDACTYLIA; CHILD, PRESCHOOL; COMPUTATIONAL BIOLOGY; FEMALE; FINGER PHALANGES; GENE EXPRESSION; HETEROZYGOTE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MODELS, MOLECULAR; MUTATION, MISSENSE; PHENOTYPE; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; TOE PHALANGES;

EID: 84938282253     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2015.05.007     Document Type: Article

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