Jackson-Weiss syndrome: Identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders

Human Genetics

Volumn 101, Issue 1, 1997, Pages 47-50

  Tartaglia, Marco ^a   Di Rocco, Concezio ^b   Lajeunie, Elisabeth ^c   Valeri, Sonia ^a   Velardi, Francesco ^b   Battaglia, Piero A ^a  

^a ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^b FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR;

ACROCEPHALOSYNDACTYLY; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHILD; CLINICAL FEATURE; CONGENITAL BONE DISEASE; CONTROLLED STUDY; CRANIOFACIAL SYNOSTOSIS; CROUZON SYNDROME; FEMALE; FOOT MALFORMATION; HUMAN; HUMAN CELL; JACKSON WEISS SYNDROME; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; RECEPTOR GENE; SCHOOL CHILD;

ACROCEPHALOSYNDACTYLIA; BONE DEVELOPMENT; CHILD; CHILD, PRESCHOOL; CRANIOFACIAL DYSOSTOSIS; CRANIOSYNOSTOSES; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FOOT DEFORMITIES, CONGENITAL; HUMANS; PHENOTYPE; POINT MUTATION; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; RECEPTORS, FIBROBLAST GROWTH FACTOR;

EID: 0031468344     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050584     Document Type: Article

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