Thanatophoric dysplasia caused by double missense FGFR3 mutations

American Journal of Medical Genetics, Part A

Volumn 149, Issue 6, 2009, Pages 1296-1301

  Pannier, Stéphanie ^a   Martinovic, Jelena ^b   Heuertz, Solange ^a   Delezoide, Anne Lise ^c   Munnich, Arnold ^a   Schibler, Laurent ^a   Serre, Valérie ^a,d   Legeai Mallet, Laurence ^a  

^a INSERM   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c HÔPITAL ROBERT DEBRÉ   (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

Double missense mutations; FGFR3; Thanatophoric dysplasia

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 3;

ALLELE; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; FETUS; FETUS ECHOGRAPHY; GENE STRUCTURE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPOCHONDROPLASIA; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; THANATOPHORIC DWARFISM;

ABORTED FETUS; ABORTION, INDUCED; ALLELES; AMINO ACID SEQUENCE; BONE DISEASES, DEVELOPMENTAL; DNA MUTATIONAL ANALYSIS; HUMANS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OSTEOCHONDRODYSPLASIAS; PROTEIN CONFORMATION; PROTEIN STRUCTURE, TERTIARY; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; SEQUENCE HOMOLOGY, AMINO ACID; THANATOPHORIC DYSPLASIA;

EID: 66349083526     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32880     Document Type: Article

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