Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis

Human Genetics

Volumn 115, Issue 3, 2004, Pages 200-207

  Rannan Eliya, Sahan V ^a,b   Taylor, Indira B ^a   de Heer, I Marieke ^c   van den Ouweland, Ans M W ^c   Wall, Steven A ^b   Wilkie, Andrew O M ^a,b  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b RADCLIFFE INFIRMARY   (United Kingdom)

^c ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CYTOSINE; FIBROBLAST GROWTH FACTOR 3; GUANINE; NUCLEOTIDE; PROLINE; FGFR3 PROTEIN, HUMAN; FIBROBLAST GROWTH FACTOR RECEPTOR; FIBROBLAST GROWTH FACTOR RECEPTOR 3; PROTEIN TYROSINE KINASE;

ACHONDROPLASIA; ACROCEPHALOSYNDACTYLY; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONFIDENCE INTERVAL; CONTROLLED STUDY; CRANIOFACIAL SYNOSTOSIS; CROUZON SYNDROME; FAMILY; GENE FREQUENCY; GENE MUTATION; GENETIC CODE; HETEROZYGOSITY; HUMAN; HUMAN GENOME; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PARENT; PATERNAL AGE; PATERNALISM; PRIORITY JOURNAL; ADULT; AGE; CHILD; FEMALE; GENETICS; MALE; MISSENSE MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; RISK FACTOR; SYNDROME;

ADULT; AGE FACTORS; AMINO ACID SUBSTITUTION; CHILD; CRANIOSYNOSTOSES; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MUTATION, MISSENSE; PATERNAL AGE; PEDIGREE; POLYMERASE CHAIN REACTION; PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; RECEPTORS, FIBROBLAST GROWTH FACTOR; RISK FACTORS; SYNDROME;

EID: 4344629742     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-004-1151-5     Document Type: Article

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