A novel mutation in FGFR2

American Journal of Medical Genetics, Part A

Volumn 167, Issue 1, 2015, Pages 123-127

  Goos, Jacqueline A C ^a   van den Ouweland, Ans M W ^a   Swagemakers, Sigrid M A ^a   Verkerk, Annemieke J M H ^a   Hoogeboom, A Jeannette M ^a   van Veelen, Marie Lise C ^a   Mathijssen, Irene M J ^a   van der Spek, Peter J ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Case reports; Craniosynostosis; FGFR2; Sequence analysis

Indexed keywords

CYTOSINE; FIBROBLAST GROWTH FACTOR RECEPTOR 2; GLYCINE; GUANINE; THYMINE; VALINE;

ACROCEPHALOSYNDACTYLY; ADULT; ARNOLD CHIARI MALFORMATION; ARTICLE; BASAL CISTERN; BRAIN SURGERY; CASE REPORT; CAUCASIAN; COMPUTER ASSISTED TOMOGRAPHY; CRANIOFACIAL SYNOSTOSIS; CROUZON SYNDROME; CROWDING (TOOTH); EXON; EXOPHTHALMOS; FGFR2 GENE; FRONTAL BOSSING; GENE; GENE IDENTIFICATION; GENE SEQUENCE; HUMAN; HYDROCEPHALUS; INTRACRANIAL PRESSURE; INTRON; LATERAL BRAIN VENTRICLE; MALE; MAXILLA HYPOPLASIA; MAXILLA OSTEOTOMY; NUCLEAR MAGNETIC RESONANCE IMAGING; PAPILLEDEMA; PHYSICAL EXAMINATION; POINT MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SKULL RADIOGRAPHY; SLEEP DISORDERED BREATHING; CHILD; DNA SEQUENCE; FACIES; FEMALE; GENETICS; INFANT; MUTATION; NEWBORN; PRESCHOOL CHILD;

ADULT; CHILD; CHILD, PRESCHOOL; EXONS; FACIES; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; INTRONS; MALE; MUTATION; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; SEQUENCE ANALYSIS, DNA;

EID: 84919625714     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36827     Document Type: Article

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