Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations

European journal of human genetics : EJHG

Volumn 22, Issue 12, 2014, Pages 1413-1416

  di Rocco, Federico ^a   Baujat, Geneviève ^a   Arnaud, Eric ^a   Rénier, Dominique ^a   Laplanche, Jean Louis ^a   Daire, Valérie Cormier ^a   Collet, Corinne ^a  

^a HÔPITAL LARIBOISIÈRE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BASIC HELIX LOOP HELIX TRANSCRIPTION FACTOR; FGFR3 PROTEIN, HUMAN; FIBROBLAST GROWTH FACTOR RECEPTOR 3; NUCLEAR PROTEIN; TCF12 PROTEIN, HUMAN; TRANSCRIPTION FACTOR TWIST; TWIST1 PROTEIN, HUMAN;

ACROCEPHALOSYNDACTYLY; CASE REPORT; FEMALE; GENETICS; HUMAN; INFANT; MALE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; SYNOSTOSIS;

ACROCEPHALOSYNDACTYLIA; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; PEDIGREE; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; SYNOSTOSIS; TWIST TRANSCRIPTION FACTOR;

EID: 85027920121     PISSN: None     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.57     Document Type: Article

References (0)