Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion

Birth Defects Research Part A - Clinical and Molecular Teratology

Volumn 76, Issue 8, 2006, Pages 629-633

  Oliveira, Nélio A J ^a   Alonso, Luís G ^b   Fanganiello, Roberto D ^a   Passos Bueno, Maria Rita ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

FGFR2; Pfeiffer type 3; Sacrococcygeal eversion; Try290Cys

Indexed keywords

CYSTEINE; TRYPTOPHAN;

ACROCEPHALOSYNDACTYLY; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRACHYDACTYLY; CASE REPORT; CRANIOFACIAL SYNOSTOSIS; DISEASE SEVERITY; DOLICHOCEPHALY; DOWNWARD PALPEBRAL SLANT; EXOPHTHALMOS; FACE DYSMORPHIA; FEMALE; FGFR2 GENE; GENE; GENE MUTATION; GENETIC ASSOCIATION; HALLUX; HUMAN; HYPERTELORISM; INFANT; MACROCEPHALY; MIDFACE HYPOPLASIA; NUCLEOTIDE SEQUENCE; ORBIT; POINT MUTATION; PRIORITY JOURNAL; PROGNOSIS; SACROCOCCYGEAL EVERSION; SKULL BASE; SKULL MALFORMATION; STRABISMUS; SYNDACTYLY; THUMB MALFORMATION; TRIGONOCEPHALY;

ACROCEPHALOSYNDACTYLIA; AMINO ACID SUBSTITUTION; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT; PHENOTYPE; POINT MUTATION; PROGNOSIS; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; SACROCOCCYGEAL REGION;

EID: 33749042120     PISSN: 15420752     EISSN: 15420760     Source Type: Journal    
DOI: 10.1002/bdra.20287     Document Type: Article

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