Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr

American Journal of Medical Genetics, Part A

Volumn 155, Issue 12, 2011, Pages 3050-3053

  Barroso, Eva ^a,b   Pérez Carrizosa, Virginia ^a,b   García Recuero, Ignacio ^c   Glucksman, Marc J ^d   Wilkie, Andrew O ^e   García Minaur, Sixto ^a,b   Heath, Karen E ^a,b  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^d ROSALIND FRANKLIN UNIVERSITY OF MEDICINE AND SCIENCE   (United States)

^e UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Craniosynostosis; FGFR3; Mutation; P.Ala334Thr

Indexed keywords

ALANINE; FIBROBLAST GROWTH FACTOR 1; IMMUNOGLOBULIN G3; THREONINE;

ARTICLE; CASE REPORT; CHILD; CRANIOFACIAL SYNOSTOSIS; DISEASE SEVERITY; EXON; FACIES; FIBROBLAST GROWTH FACTOR RECEPTOR 3 GENE; GENE LOCATION; HETEROZYGOSITY; HUMAN; HYPERTELORISM; INFANT; MALE; MUTATIONAL ANALYSIS; MUTATOR GENE; NEWBORN; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN TERTIARY STRUCTURE; SKULL RADIOGRAPHY; STRUCTURE ANALYSIS;

AMINO ACID SUBSTITUTION; CHILD, PRESCHOOL; CRANIOSYNOSTOSES; EXONS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; PHENOTYPE; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3;

VERTEBRATA;

EID: 81955164146     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34199     Document Type: Article

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